Severe Combined Immunodeficiency (SCID) Screening in Arizona: Lessons Learned from the First 2 Years.

PURPOSE: The incidence of severe combined immunodeficiency (SCID) in the USA was reported as 1 in 58,000 live births. In Arizona, it was anticipated that newborn screening would identify two to four cases of SCID per year. This estimate did not consider ethnic nuances in Arizona, with higher percentages of Native American and Hispanic populations compared to national percentages. The true incidence of SCID and non-SCID T cell lymphopenia has not previously been reported in Arizona. METHODS: A retrospective chart review was performed on all abnormal SCID newborn screening (NBS) tests in Arizona from January 1, 2018, to December 31, 2019, using data from the Arizona Department of Health Services and the Phoenix Children's Hospital's electronic medical record [IRB# 20-025]. RESULTS: Seven infants were diagnosed with SCID, yielding an incidence of 1 in 22,819 live births. Four of these infants had Artemis-type SCID. Thirteen infants were identified with an abnormal initial NBS which ultimately did not lead to a diagnosis of SCID. Four of these infants were diagnosed with congenital syndromes associated with T cell lymphopenia. Infants of Hispanic ethnicity were over-represented in this cohort. CONCLUSION: Over 2 years, NBS in Arizona confirmed an incidence more than 2.5 times that reported nationally. This increased incidence is likely reflective of Arizona's unique population profile, with a higher percentage of Native American population. The findings in our non-SCID cohort are in alignment with previously published data, except for an increased percentage of infants of Hispanic/Latino ethnicity, possibly reflecting Arizona's increased percentage of Hispanic/Latino population compared to the general US population.

Recent guidelines addressing chronic rhinosinusitis with nasal polyps: practical aspects.

Chronic rhinosinusitis (CRS) is common in adults. It is diagnosed based on a high index of suspicion alongside objective means of assessing sinus inflammation. Determining the impact of CRS on patient quality of life is an important starting point for discussions regarding treatment, and is critical for longitudinal assessment of response to specific treatments. CRS can be further categorized by the presence or absence of nasal polyps. Recent Joint Task Force on Practice Parameters Grading of Recommendations Assessment, Development, and Evaluation guidelines for the management of CRS with nasal polyps (CRSwNP) focused on 3 treatment options: intranasal corticosteroids with multiple delivery methods, biologics (monoclonal antibodies targeting type 2 inflammation), and aspirin therapy after desensitization, which only applies to the subset of patients with CRSwNP who experience acute respiratory reactions following nonsteroidal anti­inflammatory drug ingestion. The authors of the guidelines made conditional recommendations in favor of each of these 3 treatment options, highlighting the importance of shared decision­making when choosing appropriate therapy for individuals with CRSwNP.

Safety and tolerability of Evusheld in patients with CVID: The Mayo Clinic experience.

Background: The past 2 years of the COVID-19 pandemic brought with it many unknowns for patients with immunodeficiency. Because of the concern for severe infection in those with immunocompromise, patients have been eager for effective prevention, vaccination, and treatment strategies. Preexposure prophylaxis provides another means of prevention in those with immunocompromise. A combination of tixagevimab and cilgavimab (Evusheld [AstraZeneca Cambridge, United Kingdom]) was granted emergency use authorization for preexposure prophylaxis at the end of 2021, but questions remained regarding how this would be tolerated and the side effects associated with its use. Objectives: Our aim was to evaluate the safety and tolerability of Evusheld in patients with CVID from our tri-site institution. Methods: We performed an institutional review board-approved, retrospective chart review of patients with common variable immunodeficiency (CVID) who received Evusheld before March 26, 2022. Results: Of the 45 patients with CVID who received Evusheld, 41 (91%) received the recommended full dose of 600 mg. The majority of patients (39 of 45 [87%]) tolerated Evusheld without adverse events. The adverse events reported included immediate injection site pain, fatigue and cough, an episode of shingles, and chest pain. Conclusions: This is an initial report on the safety and tolerability of Evusheld injections in patients with CVID. The majority of patients tolerated the injections without adverse events. For patients with reported chest pain, the results of a subsequent cardiac workup were negative. The efficacy of Evusheld could not be evaluated owing to the short median follow-up of this study (19 days).

Immunoglobulin treatment for B-cell immunodeficiencies.

This article aims to describe the rationale and utility of immunoglobulin therapies in patients with B-cell immunodeficiency states. We describe the historical perspective, mechanism of actions, and indications for use in this population. We then focus upon management pearls and special considerations for its utility. Finally, we elaborate upon the important economic implications for these patients and the need to develop individualized management strategies in this vulnerable population.

Optimal use of intranasal corticosteroids and intranasal saline, is there a clear answer?

PURPOSE OF REVIEW: Chronic rhinosinusitis (CRS) is a prevalent condition that poses a significant burden on both quality of life and healthcare utilization. Notwithstanding the heterogenous nature of CRS endotypes and phenotypes, isotonic saline and corticosteroids are recommended as first line medical therapy by recent clinical guidelines. We provide an overview of recent studies of topical saline and corticosteroids for people with CRS and emphasize areas of unmet needs. RECENT FINDINGS: Recent trials suggest exhalation delivery systems of corticosteroid are effective and well tolerated but did not involve comparison with another active treatment. Recent comparative efficacy studies show no clear differences in doses of topical corticosteroid, method of topical corticosteroid delivery, advantage over macrolide antibiotic, or method or type of saline irrigation. SUMMARY: The preeminent formulation, dosage, and delivery of topical corticosteroid and saline for people with CRS represents an area of ongoing research need.

Effectiveness of Physical Distancing: Staying 6 Feet Over to Put Respiratory Viruses 6 Feet Under.

Community transmission of severe acute respiratory illness Coronavirus-2 (SARS-CoV-2) in Arizona was noted in March 2020. It was our hypothesis that the associated implementation of physical distancing and masking led to a decline in circulation and detection of common respiratory viruses. Nasopharyngeal swabs processed with the Biofire, Film Array respiratory panel at Mayo Clinic Arizona were reviewed from January 1, 2017, to July 31, 2020. A total of 13,324 nasopharyngeal swabs were analyzed. Between April and July 2017- 2019 (Period A) a mean of 262 tests were performed monthly, falling to 128 for the corresponding months of 2020 (Period B). A reduction in the monthly mean number of positive tests (Period A 71.5; Period B 2.8) and mean positivity rate (Period A 25.04%; Period B 2.07%) was observed. Rhinovirus/enterovirus was the most prevalent virus, with a monthly mean of 21.6 cases (30.2% of positives) for Period A and 2 cases (72.7% of positives) for Period B. Positivity for a second virus occurred in a mean of 2.1 positive tests (3.3%) in Period A but was absent in Period B. Implementation of distancing and masking coincides with a marked reduction in respiratory virus detection and likely circulation. Data from the fall/winter of 2020 will help clarify the potential role for distancing and masking as a mitigation strategy, not only for SARS-CoV-2 but also in the seasonal battle against common respiratory viruses.

Renal Trauma: The Rugby Factor.

INTRODUCTION: Renal trauma accounts for 5% of all trauma cases. Rare mechanisms of injuries including sports participation are increasingly common. Rugby-related trauma poses a conundrum for physicians and players due to the absence of clear guidelines and a paucity of evidence. Our series highlights traumatic rugby-related renal injuries in our institution, and emphasize the need for international guidelines on management. METHODS: A retrospective review of all abdominal traumas between January 2006 and April 2013, specifically assessing for renal related trauma that were secondary to rugby injuries was performed. All patients' demographics, computerized tomography results, hematological and biochemical results and subsequent management were recorded. RESULTS: Five male patients presented with rugby-related injuries. Mean age was 21 years old. All patients were hemodynamically stable and managed conservatively in acute setting. One patient was detected to have an unknown pre-existing atrophic kidney that had been subsequently injured, and was booked for an elective nephrectomy an 8-week interval. CONCLUSION: Rugby-related trauma has generated essential attention. This paper serves to highlight this type of injury and the need for defined guidelines on role of imaging and international consensus on timing of return to contact sport, in both professional and amateur settings.