Assuntos
Anafilaxia , Dermatologia , Humanos , Dermatologistas , Estudos Transversais , Porto Rico , Inquéritos e QuestionáriosRESUMO
Compound heterozygous mutations, where two distinct mutated alleles are present within a particular gene, can give rise to the Bardet-Biedl syndrome (BBS). There is limited evidence suggesting that some compound heterozygotes can present with milder phenotypic characteristics than homozygotes. We report on the clinical characteristics of a 22-year-old Puerto Rican male who was compound heterozygous for the Bardet-Biedl syndrome type 1. Our patient had deteriorating visual acuity since early childhood. Clinical and ophthalmic examination revealed retinal dystrophy, polydactyly, and very mild learning disabilities. No additional systemic complications commonly observed in patients with the BBS were present. Allele-specific testing and DNA sequencing revealed compound heterozygous mutations (M390R and E549X) in the BBS1 gene. Our findings could suggest that patients who are compound heterozygotes for these specific BBS mutations can exhibit milder clinical signs than homozygous patients.
Assuntos
Síndrome de Bardet-Biedl/genética , Síndrome de Bardet-Biedl/diagnóstico , Análise Mutacional de DNA , Humanos , Masculino , Proteínas Associadas aos Microtúbulos/genética , Mutação , Adulto JovemRESUMO
OBJECTIVE: This study aims to describe the frequency of biologic therapy failure in psoriasis patients along with associated patient demographics and characteristics. METHODS: This was a retrospective medical-record review of psoriasis patients evaluated from January 1st, 2013, through May 1st, 2018, and who failed at least once to adhere to their biologic therapy. RESULTS: Seventy-seven patients with psoriasis who had discontinued biologic therapy at least once were included in this study. Hypertension (58.4%), diabetes (37.7%), dyslipidemia (27.3%), and psoriatic arthritis (23.4%) were the main comorbidities observed. Adalimumab (ADA, 80.5%), ustekinumab (UST, 70.1%), and etanercept (ETA, 14.2%) were the most frequently used biologics in our cohort. The biologic with the longest mean duration of use prior to its discontinuation was UST (17.0 months), followed by ADA (15.9 months) and ETA (13.6 months). CONCLUSION: The most common reason for discontinuing biologic therapy was that said therapy was not effective, though for ETA and UST, the fact that biologic therapies are not universally covered by insurance company was found to be associated with their discontinuation, as well. There were no statistically significant associations found between biologic therapy discontinuation and age, gender, or comorbidities, which last included obesity, class I. Larger studies are warranted to identify risk factors associated with biologic therapy failure to help guide drug selection, decrease morbidity associated with such nonadherence and improve patient outcomes.
Assuntos
Adalimumab/uso terapêutico , Terapia Biológica , Etanercepte/uso terapêutico , Psoríase/tratamento farmacológico , Ustekinumab/uso terapêutico , Humanos , Psoríase/epidemiologia , Estudos Retrospectivos , Resultado do TratamentoRESUMO
OBJECTIVE: In this study, we assessed the Kidney Donor Risk Index (KDRI) in Puerto Rican deceased kidney donors whose donations took place from 2009 to 2011 and evaluated short-term graft survival in the recipients of those kidneys. The results highlight differences between the distributions of KDRI values in the populations of the 48 contiguous states of the United States, Alaska, and Hawaii and that of Puerto Rico. Additionally, we evaluated the impacts of polyomavirus (BKV) infection and anti-donor HLA antibodies on the recipients. METHODS: Of the 377 kidneys obtained from deceased donors by LifeLink of Puerto Rico from 2009 to 2011, 187 were transplanted in Puerto Rico. Data was collected from the deceased donors of these 187 kidneys for calculating KDRI, as well as from the transplant recipients. KDRI values of the donors were calculated using the same formula as previously reported for the United States; death-censored graft survival, incidence of antibody-mediated rejection, and prevalence of polyoma virus infection (BKV) were examined in the recipients. RESULTS: The mean KDRI value was 1.19. However, the distribution of KDRI values in the Puerto Rican population deviates substantially from that of the United States (not including Puerto Rico). A 1-peak distribution pattern describes Puerto Rican KDRI values. Graft survival for the study period was 89.6%. The prevalence of BKV was 16.9%. Of the patients studied, 6.25% developed overt nephropathy, 46.2% developed de novo post-transplant donor-specific alloantibodies, and 19.5% had pre-existing alloantibodies. CONCLUSION: Our study evidences the role of various characteristics in the distribution of KDRI values in the Puerto Rican population, suggesting that the identification of variables specific to a geographically distinct group may result in better donor categorization for predicting transplant outcomes. In addition, our graft-survival results, despite the elevated rates of BKV and anti-donor antibodies, highlight the increasing need to monitor the presence of antibodies in a prospective and an anticipatory manner to identify and manage patients at risk for antibodymediated rejection.