Chalhoub N.,New York Medical College |
Kamel H.,Section of Radiology |
Ehlayel M.,Section of Allergy and Immunology |
Ibrahim N.,National Research Center of Egypt |
And 6 more authors.
Clinical Genetics | Year: 2015
We present a Qatari family with two children who displayed a characteristic phenotype of congenital marked pain insensitivity with hypohidrosis and progressive aseptic destruction of joints and vertebrae resembling that of hereditary sensory and autonomic neuropathies (HSANs). The patients, aged 10 and 14, remained of uncertain genetic diagnosis until whole genome sequencing was pursued. Genome sequencing identified a novel homozygous C65S mutation in the LIFR gene that is predicted to markedly destabilize and alter the structure of a particular domain and consequently to affect the functionality of the whole multi-domain LIFR protein. The C65S mutant LIFR showed altered glycosylation and an elevated expression level that might be attributed to a slow turnover of the mutant form. LIFR mutations have been reported in Stüve-Wiedemann syndrome (SWS), a severe autosomal recessive skeletal dysplasia often resulting in early death. Our patients share some clinical features of rare cases of SWS long-term survivors; however, they also phenocopy HSAN due to the marked pain insensitivity phenotype and progressive bone destruction. Screening for LIFR mutations might be warranted in genetically unresolved HSAN phenotypes. © 2015 John Wiley & Sons A/S.
Apter A.J.,Section of Allergy and Immunology |
Apter A.J.,University of Pennsylvania |
Wan F.,University of Pennsylvania |
Reisine S.,University of Connecticut Health Center |
And 14 more authors.
Journal of Asthma | Year: 2013
Background: Asthmatic adults from low-income urban neighborhoods have inferior health outcomes which in part may be due to barriers accessing care and with patient-provider communication. We adapted a patient advocate (PA) intervention to overcome these barriers. Objective: To conduct a pilot study to assess feasibility, acceptability and preliminary evidence of effectiveness. Methods: A prospective randomized design was employed with mixed methods evaluation. Adults with moderate or severe asthma were randomized to 16 weeks of PA or a minimal intervention (MI) comparison condition. The PA, a non-professional, modeled preparations for a medical visit, attended the visit and confirmed understanding. The PA facilitated scheduling, obtaining insurance coverage and overcoming barriers to implementing medical advice. Outcomes included electronically-monitored inhaled corticosteroid (ICS) adherence, asthma control, quality of life, FEV1, emergency department (ED) visits and hospitalizations. Mixed-effects models guided an intention-to-treat analysis. Results: 100 adults participated: age 47 ± 14 years, 75% female, 71% African-American, 16% white, baseline FEV1 69% ± 18%, 36% experiencing hospitalizations and 56% ED visits for asthma in the prior year. Ninety-three subjects completed all visits; 36 of 53 PA-assigned had a PA visit. Adherence declined significantly in the control (p = 0.001) but not significantly in the PA group (p = 0.30). Both PA and MI groups demonstrated improved asthma control (p = 0.01 in both) and quality of life (p = 0.001, p = 0.004). Hospitalizations and ED visits for asthma did not differ between groups. The observed changes over time tended to favor the PA group, but this study was underpowered to detect differences between groups. Conclusion: The PA intervention was feasible and acceptable and demonstrated potential for improving asthma control and quality of life. © 2013 Informa Healthcare USA, Inc.
Shaker M.S.,Dartmouth Hitchcock Medical Center |
Gruenberg D.A.,Section of Allergy and Immunology
Current Opinion in Pediatrics | Year: 2013
Purpose of review Allergic reactions to stinging insects may be unexpected, frightening, and severe. A clear understanding of recent advances in the field facilitates appropriate care of children who experience severe reactions to hymenoptera stings. Recent findings Recent investigations have underscored the importance of appropriate patient selection for potentially lifesaving venom immunotherapy. Venom immunotherapy is effective in preventing future anaphylaxis from hymenoptera stings. Immunotherapy is indicated for patients with a history of anaphylaxis. Children who develop large local swelling or strictly cutaneous systemic reactions generally do not require immunotherapy. Component resolved diagnostic testing has been investigated to clarify the possibility of multiple venom allergies in patients with sensitization to multiple venoms. Summary Rapid recognition and treatment of anaphylaxis are critical. Subsequent education about avoiding future stings and attention to emergency preparedness with appropriate prescription of self-injectable epinephrine is important. Referral of patients who have experienced venom-associated anaphylaxis for possible venom immunotherapy can prevent future severe episodes of anaphylaxis resulting from stings. © 2013 Wolters Kluwer Health / Lippincott Williams & Wilkins.
Black H.L.,Section of Allergy and Immunology |
Priolo C.,Section of Allergy and Immunology |
Akinyemi D.,Section of Allergy and Immunology |
Gonzalez R.,Section of Allergy and Immunology |
And 4 more authors.
Journal of Asthma | Year: 2010
Background. Patients with moderate or severe asthma, particularly those who are minority or poor, often encounter significant personal, clinical practice, and health system barriers to accessing care. Objective. To explore the ideas of patients and providers for potentially feasible, individualized, cost-effective ways to reduce obstacles to care by providing social support using a patient advocate or navigator. Methods. The authors conducted four focus groups of adults with moderate or severe asthma. Participants were recruited from clinics serving low-income and minority urban neighborhoods. Data from these patient focus groups were shared with two additional focus groups, one of nurses and one of physicians. Researchers independently coded and agreed upon themes from all focus groups, which were categorized by types of social support: instrumental (physical aid), informational (educational), emotional (empathizing), validation (comparisons to others). Results. Patients and providers agreed that a patient navigator could help patients manage asthma by giving social support. Both groups found instrumental and informational support most important. However, patients desired more instrumental help whereas providers focused on informational support. Physicians stressed review of medical information whereas patients wanted information to complete administrative tasks. Providers and patients agreed that the patient navigator's role in asthma would need to address both short-term care of exacerbations and enhance long-term chronic self-management by working with practice personnel. Conclusions. Along with medical information, there is a need for providers to connect patients to instrumental support relevant to acute and long-term asthma-self-management. © 2010 Informa Healthcare USA, Inc.