Unveiling the Uncommon: A Unique Case of ALPS-Like Syndrome Complicated by Plasma Cell Disorder.

Multiple myeloma is a rare disease in pediatrics, where about 30 cases are described under 15 years old. It is even rarer when atypical multiple myeloma occurs in the context of autoimmunity. This case describes a 9-year-old female with autoimmune lymphoproliferative-like disease and combined immune deficiency that developed acute kidney failure with monoclonal peak associated with RAC2 and TNFRSF9 variants. An adapted protocol from the backbone adult multiple myeloma standard of care with the addition of an allogeneic hematopoietic stem cell transplant was used. The patient, now nearly a year posttransplant, shows 100% chimerism with no sign of relapse.

Safety of Direct Drug Provocation for the Evaluation of Penicillin Allergy in Low-Risk Adults.

BACKGROUND: About 10% of patients have a penicillin allergy label, but less than 5% of them are actually allergic. Unnecessary penicillin avoidance is associated with serious medical consequences. Given the growing number of these labels, it is imperative that our diagnostic strategy for penicillin allergy be as efficient as possible. The validity of traditionally used skin tests (STs) has been questioned, whereas drug provocation testing (DPT), the criterion standard, without previous ST appears very safe in most cases. OBJECTIVE: To evaluate the safety of direct DPT without consideration for ST results and the validity of ST in the diagnosis of penicillin allergy. METHODS: In this prospective cohort study without a control group, we recruited patients consulting an allergist for penicillin allergy. Patients underwent ST followed by DPT regardless of ST results. Patients with anaphylaxis to penicillin within the past 5 years or a severe delayed reaction were excluded, as were those with significant cardiorespiratory comorbidity. RESULTS: None of the 1002 recruited patients had a serious reaction to DPT. Ten (1.0%) had a mild immediate reaction, of whom only 1 (0.1%) was considered likely IgE-mediated. The positive and negative predictive values of ST for an immediate reaction were 3.6% and 99.1%, respectively. CONCLUSIONS: In a low-risk adult population reporting penicillin allergy, ST has very poor positive predictive value. Direct DPT without ST is safe and appears to be an ideal diagnostic strategy to remove penicillin allergy labels that could be implemented in first-line practice.

Tiotropium bromide as adjunct therapy in children with asthma: a clinical experience.

BACKGROUND: The Global Initiative for Asthma has only recently added tiotropium bromide as adjunct controller therapy in severe asthma (Step 4 or 5) in adults (2015) and children (2019). Although not yet approved for pediatric use by Health Canada, it has been occasionally offered by asthma specialists as a therapeutic trial in children with troublesome asthma or treatment for adverse effects. The objective of this study was to describe the indications and real-life clinical experience in initiating tiotropium in children with asthma. METHODS: We designed a retrospective mixed-method case series study of children aged 1-17 years who initiated tiotropium in our tertiary-care centre between 2013 and 2020. Clinical information was extracted from electronic medical records and tiotropium dispensing, from drug claims. Parents/children and physicians independently completed a questionnaire about treatment goals, perceived efficacy, safety, satisfaction, and lessons learned. RESULTS: The 34 (11 females; 23 males) children had a median (range) age of 9.1 (1.4-17.8) years. Children were primarily on Step 4 (85%) or 5 (6%) prior to tiotropium initiation, yet most (84%) did not increase their treatment step after tiotropium initiation. The physicians' treatment goals were to improve asthma control, alleviate adverse effects of current therapy, and/or improve lung function. The most improved symptoms were coughing/moist cough, difficulty breathing, whistling breath, and bronchial secretions/mucus. Although most parents and physicians reported a significant benefit with tiotropium bromide, physicians particularly remarked, as their "lesson learned', on the improvement in chronic symptoms in asthmatic children, particularly those with prominent moist cough and in lung function, in those with seemingly none (or incompletely) reversible obstruction as well as the ability to decrease the ICS and/or LABA dose to lessen adverse effects. A few physicians raised caution on the risk of lower adherence with an additional inhaler. CONCLUSION: In children with severe asthma on Step 4 or 5, tiotropium bromide was primarily used as substitute, rather than additional, adjunct therapy to improve asthma control, alleviate adverse effects, and/or to improve lung function. The latter two indications, combined with its perceived effectiveness in children with prominent moist cough, also suggest additional indications of tiotropium to be formally explored.

Risk of adrenal insufficiency following intra-articular or periarticular corticosteroid injections among children with chronic arthritis.

Objectives Intra-articular and/or periarticular corticosteroid injection (IACI) is a common procedure in pediatric rheumatology. Despite many adult studies demonstrating a significant risk of adrenal insufficiency (AI) following the procedure, very little evidence is available in the pediatric literature regarding this risk. The main goal of this study is to evaluate the prevalence of AI in children with chronic arthritis following IACI. Methods This is a retrospective study including children aged 0-18 years who had an IACI from June 2017 to July 2019. An 8:00 morning cortisol (8MC) sample was drawn around two weeks after the injection, and an ACTH 1mcg stimulation test was performed if morning cortisol level was low. AI was defined as an 8MC under 50 nmol/L or an abnormal ACTH stimulation test. Risks factors for AI and its duration were assessed. Results Sixty patients were included in this study. AI prevalence was 30% with 18 of 60 affected patients. The corticosteroid dose injected was statistically associated with the development of AI. Median duration of AI was 181 days for the nine patients who were followed up until resolution of AI. Four patients developed symptoms of AI, namely fatigue (2 of 4), nausea (2 of 4) and abdominal pain (3 of 4). None were hospitalized or died. Conclusions In this cohort of children with chronic arthritis who had an IACI, we found a high prevalence of AI. Monitoring and counseling of such complication is warranted until further evidence is available.