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1.
J Allergy Clin Immunol Pract ; 10(7): 1676-1687, 2022 07.
Article in English | MEDLINE | ID: mdl-35643275

ABSTRACT

Genetic testing is a state-of-the-art and readily accessible diagnostic tool and is increasingly indicated in the evaluation process when relevant and possible, although incorporation of this modality into the daily practice of allergists-immunologists in both academic and nonacademic or community settings is still a challenge. Educational sessions and resources support the use of genetic testing in the diagnosis and management of primary immunodeficiency by both the American Academy of Allergy, Asthma & Immunology and the Clinical Immunology Society. Genetic testing for primary immunodeficiency has become much more convenient and affordable over the past decade; allergist-immunologists in private practice are now able to offer patients high-quality and comprehensive genetic testing panels to help diagnose or characterize underlying immune abnormalities among patients with recurrent infections, and even patients with allergic disorder and noninfectious complications. Although genetic testing has not been a commonplace consideration in day-to-day practice for many nonacademic specialists, a shift toward adopting this into our standard toolkit should be taking place. Most of the commercial genetic testing is aiming for a panel of genes ranging anywhere from just a few to several hundred, so the specialist can feel comfortable clearly interpreting the data. As the panels are analyzing data from next-generation sequencing and deletion/duplication assays, this evaluation may need to be repeated when panels expand and include new relevant genes. Ultimately, for undiagnosed cases, whole-exome and whole-genome sequencing can be the next step; however, involvement of genetic counselors may be needed to interpret the data. The value of genetic testing is that it may bring the clinician closer to an accurate diagnosis; therefore, we can keep treating our patients more accurately and effectively, which may result in less frequent follow-ups for unresolved or recurrent problems. In addition, we can then provide patients and their families with important information about the root cause of their disease state, risks to other family members, and offer genetic counseling services. Genetic testing results may also aid in recognizing when a referral to expert colleagues for more advanced and specialized treatments is indicated.


Subject(s)
Genetic Counseling , Genetic Testing , Exome , Humans , Referral and Consultation , United States
3.
Ann Allergy Asthma Immunol ; 113(5): 544-8, 2014 Nov.
Article in English | MEDLINE | ID: mdl-25442696

ABSTRACT

BACKGROUND: In 1971, we published a survey regarding pediatricians' attitudes toward the field of allergy/immunology (A/I). Results indicated general attitudes and practices fell short of what most allergist-immunologists would hope. We revisited this in 1998 to determine how pediatricians' attitudes toward A/I had changed nearly 3 decades later. Despite some advances, results from 1998 revealed that A/I remained a misunderstood specialty. With the increasing incidence of atopic disorders and improving awareness of primary immunodeficiency, it is more important today than ever before that pediatricians and general practitioners have a strong appreciation for the scope of disorders the subspecialty of A/I encompasses. OBJECTIVE: To reevaluate attitudes and practices of pediatricians toward A/I 40 years after the initial study and 13 years after this topic was last addressed. METHODS: A 25-question survey was mailed to 293 pediatricians in the St Louis area. Surveys were completed confidentially. Pearson correlation and χ(2) analyses were performed. RESULTS: Of 293 pediatricians polled, 135 (46%) responded. Referrals to allergist-immunologists for urticaria have increased. Fewer pediatricians are referring asthma and atopic dermatitis patients to allergist-immunologists. Personal experience referring to an allergist-immunologist remains the greatest influence on current attitudes toward A/I. Prior exposure to A/I during medical education continues to have the least influence on pediatricians' attitudes toward A/I. CONCLUSION: Increased appropriate referrals and improved patient outcomes could result from efforts to enhance A/I education during medical school and residency, maintain effective communication with referring physicians, and break down referral barriers to improve physicians' attitudes toward A/I.


Subject(s)
Health Knowledge, Attitudes, Practice , Hypersensitivity/psychology , Practice Patterns, Physicians' , Adult , Aged , Chi-Square Distribution , Humans , Middle Aged , Missouri , Pediatrics , Surveys and Questionnaires
4.
Allergy Asthma Proc ; 34(6): 558-61, 2013.
Article in English | MEDLINE | ID: mdl-24169064

ABSTRACT

A 61-year-old woman presented to our Allergy/Immunology clinic for pruritic dermatitis of both arms since 2006. Initial symptoms included pruritus and burning dysesthesias of the upper extremities without a rash. Months later an excoriated, papular rash developed along the upper extremities. Cold compresses provided some relief, whereas sun exposure worsened symptoms. Over the years consultations with multiple dermatologists did not elicit a diagnosis, and symptoms did not improve after numerous trials of topical corticosteroids and systemic antihistamines. The differential diagnosis of pruritic rash is extensive; however, in the case of chronic pruritus without a primary rash other diagnoses should come to mind. Although pruritus is a hallmark of many atopic conditions, as allergists-immunologists it is important to remember that not all pruritus is atopic in nature. Prompt recognition and treatment of an occult process presenting primarily with pruritus will likely result in improved outcomes for the patient.


Subject(s)
Arm/pathology , Dermatitis/prevention & control , Hypersensitivity/diagnosis , Intervertebral Disc Displacement/diagnosis , Pruritus/prevention & control , Amines/administration & dosage , Cyclohexanecarboxylic Acids/administration & dosage , Dermatitis/etiology , Diagnosis, Differential , Female , Foramen Magnum/diagnostic imaging , Foramen Magnum/pathology , Gabapentin , Humans , Intervertebral Disc Displacement/complications , Intervertebral Disc Displacement/drug therapy , Magnetic Resonance Imaging , Middle Aged , Pruritus/etiology , Radiography , Spine/diagnostic imaging , Spine/pathology , Steroids/administration & dosage , Treatment Outcome , gamma-Aminobutyric Acid/administration & dosage
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