ABSTRACT
Congenital ichthyoses are a heterogeneous group of genetic skin disorders characterized by defects in the critical barrier function of the skin. These life-long conditions present a significant therapeutic challenge in dermatology. One important example is Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects, or CHILD syndrome. This is a rare congenital ichthyosis caused by mutations in cholesterol biosynthesis. With limited success, the cutaneous features of this condition have historically been managed symptomatically with emollients, topical keratolytics, and topical steroids. However, over the last decade, topical therapy directed at the pathogenesis of this condition has emerged as an effective treatment. Herein, we report a case of successful treatment of the cutaneous features of CHILD syndrome with compounded simvastatin and cholesterol gel and highlight the role of the compounding pharmacist in the care of patients with congenital ichthyosis.
Subject(s)
Abnormalities, Multiple/physiopathology , Cholesterol/pharmacology , Genetic Diseases, X-Linked/physiopathology , Ichthyosiform Erythroderma, Congenital/physiopathology , Limb Deformities, Congenital/physiopathology , Adolescent , Humans , SimvastatinABSTRACT
Importance: External store-and-forward (SAF) teledermatology systems operate separately from the primary health record and have many limitations, including care fragmentation, inadequate communication among clinicians, and privacy and security concerns, among others. Development of internal SAF workflows within existing electronic health records (EHRs) should be the standard for large health care organizations for delivering high-quality dermatologic care, improving access, and capturing other telemedicine benchmark data. Epic EHR software (Epic Systems Corporation) is currently one of the most widely used EHR system in the United States, and development of a successful SAF workflow within it is needed. Objectives: To develop an SAF teledermatology workflow within the Epic system, the existing EHR system of Parkland Health and Hospital System (Dallas, Texas), assess its effectiveness in improving access to care, and validate its reliability; and to evaluate the system's ability to capture meaningful outcomes. Design, Setting, and Participants: Electronic consults were independently evaluated by 2 board-certified dermatologists, who provided diagnoses and treatment plans to primary care physicians (PCPs). Results were compared with in-person referrals from May to December 2013 from the same clinic (a community outpatient clinic in a safety-net public hospital system). Patients were those 18 years or older with dermatologic complaints who would have otherwise been referred to dermatology clinic. Main Outcomes and Measures: Median time to evaluation; percentage of patients evaluated by a dermatologist through either teledermatology or in-person compared with the previous year. Results: Seventy-nine teledermatology consults were placed by 6 PCPs from an outpatient clinic between May and December 2014; 57 (74%) were female and their mean (SD) age was 47.0 (12.4) years. Teledermatology reduced median time to evaluation from 70.0 days (interquartile range [IQR], 33.25-83.0 days) to 0.5 days (IQR, 0.172-0.94 days) and median time to treatment from 73.5 to 3.0 days compared with in-person dermatology visits. Overall, a greater percentage of patients (120 of 144 [83.3%]) were evaluated by a dermatologist through either teledermatology or in-person during the 2014 study period compared with the previous year (111 of 173 [64.2%]). Primary care physicians followed management recommendations 93% of the time. Conclusions and Relevance: Epic-based SAF teledermatology can improve access to dermatologic care in a public safety-net hospital setting. We hope that the system will serve as a model for other health care organizations wanting to create SAF teledermatology workflows within the Epic EHR system.
Subject(s)
Dermatology/methods , Electronic Health Records , Health Services Accessibility , Skin Diseases/diagnosis , Telemedicine/methods , Adult , Female , Follow-Up Studies , Humans , Male , Middle Aged , Pilot Projects , Primary Health Care/methods , Public Health/methods , Referral and Consultation , Reproducibility of Results , Skin Diseases/therapy , Software , Time Factors , WorkflowSubject(s)
Arthritis, Rheumatoid/drug therapy , Bone Density Conservation Agents/adverse effects , Calciphylaxis/chemically induced , Erythema Nodosum/chemically induced , Osteoporosis/drug therapy , Teriparatide/adverse effects , Arthritis, Rheumatoid/complications , Arthritis, Rheumatoid/diagnosis , Bone Density Conservation Agents/administration & dosage , Calciphylaxis/diagnosis , Diagnosis, Differential , Drug Therapy, Combination , Erythema Nodosum/diagnosis , Female , Follow-Up Studies , Humans , Middle Aged , Osteoporosis/complications , Osteoporosis/diagnosis , Prednisone/administration & dosage , Risk Assessment , Severity of Illness Index , Teriparatide/administration & dosage , Warfarin/administration & dosageABSTRACT
An in vivo screen was performed in search of chemicals capable of enhancing neuron formation in the hippocampus of adult mice. Eight of 1000 small molecules tested enhanced neuron formation in the subgranular zone of the dentate gyrus. Among these was an aminopropyl carbazole, designated P7C3, endowed with favorable pharmacological properties. In vivo studies gave evidence that P7C3 exerts its proneurogenic activity by protecting newborn neurons from apoptosis. Mice missing the gene encoding neuronal PAS domain protein 3 (NPAS3) are devoid of hippocampal neurogenesis and display malformation and electrophysiological dysfunction of the dentate gyrus. Prolonged administration of P7C3 to npas3(-/-) mice corrected these deficits by normalizing levels of apoptosis of newborn hippocampal neurons. Prolonged administration of P7C3 to aged rats also enhanced neurogenesis in the dentate gyrus, impeded neuron death, and preserved cognitive capacity as a function of terminal aging. PAPERCLIP:
