Jocelyn Celestin

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

IMPORTANCE Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. Currently 23 states, the District of Columbia, and the Navajo Nation conduct population-wide newborn screening for SCID. The incidence of SCID is estimated at 1 in 100,000 births. OBJECTIVES To present data from a spectrum of SCID newborn screening programs, establish population-based incidence for SCID and other conditions with T-cell lymphopenia, and document early institution of effective treatments. DESIGN Epidemiological and retrospective observational study. SETTING Representatives in states conducting SCID newborn screening were invited to submit their SCID screening algorithms, test performance data, and deidentified clinical and laboratory information regarding infants screened and cases with nonnormal results. Infants born from the start of each participating program from January 2008 through the most recent evaluable date prior to July 2013 were included. Representatives from 10 states plus the Navajo Area Indian Health Service contributed data from 3,030,083 newborns screened with a TREC test. MAIN OUTCOMES AND MEASURES Infants with SCID and other diagnoses of T-cell lymphopenia were classified. Incidence and, where possible, etiologies were determined. Interventions and survival were tracked. RESULTS Screening detected 52 cases of typical SCID, leaky SCID, and Omenn syndrome, affecting 1 in 58,000 infants (95% CI, 1/46,000-1/80,000). Survival of SCID-affected infants through their diagnosis and immune reconstitution was 87% (45/52), 92% (45/49) for infants who received transplantation, enzyme replacement, and/or gene therapy. Additional interventions for SCID and non-SCID T-cell lymphopenia included immunoglobulin infusions, preventive antibiotics, and avoidance of live vaccines. Variations in definitions and follow-up practices influenced the rates of detection of non-SCID T-cell lymphopenia. CONCLUSIONS AND RELEVANCE Newborn screening in 11 programs in the United States identified SCID in 1 in 58,000 infants, with high survival. The usefulness of detection of non-SCID T-cell lymphopenias by the same screening remains to be determined.

Impact of elimination diets on growth and nutritional status in children with multiple food allergies.

Impairment of growth has been reported in food‐allergic children. It is not known whether this is related to the extent of food allergies. We sought to compare growth, nutritional status, and nutrient intake in children with food allergy either avoiding cows milk or avoiding cows milk and wheat, which are staples of the diet in young children.

Anaphylaxis avoidance and management: educating patients and their caregivers.

Anaphylaxis is an increasingly prevalent problem in westernized countries. Therefore, it is of utmost importance that the increasing numbers of patients at risk for anaphylaxis receive proper education on the etiology and risk factors as well as appropriate treatment of anaphylaxis with epinephrine. The physician’s role is crucial in order to educate the patients and care takers on effective measures to prevent anaphylaxis and empower them to take charge of early recognition and proper management of an anaphylactic reaction to prevent poor outcomes. This review summarizes the clinical presentation, triggers, avoidance, and management of anaphylaxis.

Pediatric Sleep Apnea Syndrome: An Update

Obstructive sleep apnea syndrome (OSAS) may be central neurologic (<5%) or obstructive (>95%) in origin and is a relatively prevalent condition in children. It affects 1%-5% of children aged 2-8 years and is caused by a variety of different pathophysiologic abnormalities. Cardiovascular, metabolic, and neurocognitive comorbidities can occur in both children and adults when left untreated. It also can cause severe behavioral problems in children. The American Academy of Pediatrics recommends that all children be screened with an appropriate history and physical examination for symptoms and signs suggestive of OSAS. The diagnosis is primarily made clinically and confirmed by polysomnographic findings. Treatment depends on the childs age, underlying medical problems, polysomnography findings, and whether or not there is upper airway obstruction usually secondary to enlarged adenoids and/or tonsils, allergic and nonallergic rhinitis, acute and chronic sinusitis, and other upper airway pathology. If enlarged adenoid or tonsils or both conditions exist, an adenoidectomy, tonsillectomy, or adenotonsillectomy remains the treatment of choice. Pharmacotherapy of OSAS has shown some effect in children with mild symptoms. This paper reviews the prevalence, pathophysiology, clinical presentation, diagnosis, and treatment of OSAS.

Proactive penicillin allergy testing in primary care patients labeled as allergic: outcomes and barriers

ABSTRACT Objectives: To promote penicillin allergy testing in an outpatient setting in patients labeled as penicillin allergic, to determine the number of those who are truly allergic, evaluate patient satisfaction with the testing, and educate both patients and clinicians about testing. Methods: Patients with a history of penicillin allergy listed in their EHR were screened and recruited by their primary care office and referred for penicillin allergy testing. The results of allergy testing and patient satisfaction after testing were the main outcomes. We also surveyed the primary care physicians about perceived barriers to recruitment. Results: A total of 82 patients were recruited, although only 37 actually underwent testing. None of these 37 had a positive skin test, and none of 36 had a positive oral challenge (1 refused it). Following testing, 2 patients (5%) had subjective reactions within 24 h. Thirty-one patients (84%) responded to a post-testing follow-up questionnaire; 3 (10%) were subsequently treated with a beta-lactam, and all reported that testing provided important information to their medical history. Providers identified time constraints, either their or their patients lack of time, as the major barrier to recruitment. Conclusions: Penicillin allergy testing safely evaluates patients labeled as penicillin allergic. It is well tolerated, and embraced by the patients who undergo testing. In our study, none of the patients tested had an allergic reaction, but we identified multiple barriers to developing a protocol for testing patients from the primary care setting.

Eosinophilic disorders in various diseases.

Peripheral and tissue eosinophilia are usually associated with a variety of inflammatory, malignant, and infectious conditions. As the presence of eosinophils in the tissues may cause significant cellular damage to vital organs such as the heart, tissue eosinophilia should be diagnosed and treated promptly. One operative way to evaluate eosinophilic disorders is to classify them into extrinsic and intrinsic. While extrinsic eosinophilic disorders are usually due to the production of eosinopoietic factors derived from T cells or tumor cells, the intrinsic types generally are the result of genetic mutations in the eosinophilic lineage. As we understand more the biology of eosinophils, only a few eosinophilic disorders remain idiopathic. The purpose of this article is to help the clinician classify in an operational manner most eosinophilic disorders, using the extrinsic and intrinsic model. This may facilitate not only a better understanding of the role of eosinophils in these disorders, but also help the systematic clinical work-up and potential treatment of affected patients.