Conversion Rate of Tuberculosis Screening Tests among Dermatology Patients Treated with Tumor Necrosis Factor Inhibitors.

Background: The use of tumor necrosis factor-α inhibitors (TNFi) has been associated with an increased risk latent tuberculosis (TB) reactivation. The role of TB screening assays in monitoring patients during TNFi therapy remains uncertain. Spontaneous conversions and reversions have been described. Aims: This study aims to determine the conversion and reversion rate of TB screening tests among dermatology patients receiving TNFi in a country with moderate TB incidence. Subjects and Methods: A retrospective single-center study conducted on all patients in whom treatment with TNFi was initiated in our dermatology clinic in a tertiary university hospital, Riyadh, Saudi Arabia, until September 2018. Data were collected from the hospital electronic patient information system. Results: One hundred and eighteen patients were included. Majority (79.9%) of patients used adalimumab. Psoriasis was the most common indication (90%). Among patients with negative baseline TB screening who had been retested during TNFi therapy (n = 65; 55%), conversion to positive was observed in nine patients (13.8%) with a mean duration of exposure of 39.7 months, whereas among patients with positive TB testing result (n = 18), 10 (55.5%) reverted to negative. Conclusions: This study emphasizes the need for prospective large-scale multispecialty studies assessing the significance of TB retesting, which should be considered when designing rescreening protocols.

Publications pattern of dermatology research in Saudi Arabia.

OBJECTIVES: To analyze the quantity and characteristics of Saudi Arabia's (SA's) dermatology research publications throughout the years. Methods: A literature search was conducted between October 2018 and July 2019 in the Dermatology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia. PubMed was used as a search engine, to retrieve dermatology-related publications in SA - from the date of the first article publication in 1982 to December 31, 2018. Results: Five hundred publications were included. Two-thirds of them were written between 2010 and 2018. Approximately 50% were from the central region and only 3% were multiregional studies. Funding support was described in 13% of these publications. The top 5 most-researched fields were infectious disorders (12%), genodermatosis (10%), hypopigmentation disorders (9.4%), neoplastic disorders (9%), and hair disorders (7%). Two-thirds of the publications were observational studies, and mostly case reports (44%). Conclusion: Dermatology research in SA has increased over the past decade. However, the quality of research remains inadequate. Saudi Arabia's dermatology research output is affected b   y the availability of funding and national research projects, which could improve the studies' quality. We recommend the establishment of data registry units that can aid researchers in producing high-quality studies, while encouraging the collaboration of different centers in various SA regions (and abroad) to conduct research with generalizable results.

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

BACKGROUND: Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic test. METHODS: In May 2013, we implemented exome sequencing in routine diagnostics for patients suffering from PIDs. This study reports the clinical utility and diagnostic yield for a heterogeneous group of 254 consecutively referred PID patients from 249 families. For the majority of patients, the clinical diagnosis was based on clinical criteria including rare and/or unusual severe bacterial, viral, or fungal infections, sometimes accompanied by autoimmune manifestations. Functional immune defects were interpreted in the context of aberrant immune cell populations, aberrant antibody levels, or combinations of these factors. RESULTS: For 62 patients (24%), exome sequencing identified pathogenic variants in well-established PID genes. An exome-wide analysis diagnosed 10 additional patients (4%), providing diagnoses for 72 patients (28%) from 68 families altogether. The genetic diagnosis directly indicated novel treatment options for 25 patients that received a diagnosis (34%). CONCLUSION: Exome sequencing as a first-tier test for PIDs granted a diagnosis for 28% of patients. Importantly, molecularly defined diagnoses indicated altered therapeutic options in 34% of cases. In addition, exome sequencing harbors advantages over gene panels as a truly generic test for all genetic diseases, including in silico extension of existing gene lists and re-analysis of existing data.