Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR

Severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) are inborn errors of immune function that require prompt diagnosis and treatment to prevent life-threatening infections. The lack of functional T or B lymphocytes in these diseases serves as a diagnostic criterion and can be applied to neonatal screening. A robust triplex PCR method for quantitation of T-cell receptor excision circles (TRECs) and κ-deleting recombination excision circles (KRECs), using a single Guthrie card punch, was developed and validated in a cohort of 2560 anonymized newborn screening cards and in 49 original stored Guthrie cards from patients diagnosed with SCID, XLA, ataxia-telangiectasia, Nijmegen-breakage-syndrome, common variable immunodeficiency, immunoglobulin A deficiency, or X-linked hyper-IgM syndrome. Simultaneous measurement of TREC and KREC copy numbers in Guthrie card samples readily identified patients with SCID, XLA, ataxia-telangiectasia and Nijmegen-breakage-syndrome and thus facilitates effective newborn screening for severe immunodeficiency syndromes characterized by the absence of T or B cells.     

Clinical assessment of the efficacy of photodynamic therapy in the treatment of oral lichen planus

The study objective was clinical assessment of the efficacy of photodynamic therapy (PDT) in the treatment of oral lichen planus (OLP). There were 23 patients aged 31–82 included in the study with oral lichen planus diagnosed clinically and histopathologically. In all patients photodynamic therapy was performed with the use of chlorin e6 (Photolon^®), containing 20 % chlorin e6 and 10 % dimethyl sulfoxide as a photosensitizer. PDT was performed using a semiconductor laser, with power up to 300 mW and a wavelength of 660 nm. A series of illumination sessions was conducted with the use of superficial light energy density of 90 J/cm². Changes of lesion size were monitored at one, two, five, and ten PDT appointments from the series of ten according to the authors' own method. The sizes of clinical OLP lesions exposed to PDT were reduced significantly (on average by 55 %). The best effects were observed for the lesions on the lining mucosa (57.6 %). The therapy was statistically significantly less effective when masticatory mucosa was affected (reduction, 30.0 %). Due to substantial efficacy and noninvasiveness, PDT can be useful in the treatment of OLP lesions.     

Venous access and care: harnessing pragmatics in harm reduction for people who inject drugs

Aim To explore the facilitators of long‐term hepatitis C avoidance among people who inject drugs. Design We employed a qualitative life history design. Setting Recruitment took place through low‐threshold drug services and drug user networks in South East and North London. Participants were interviewed at the recruitment services or in their homes. Participants The sample comprised 35 people who inject drugs, 20 of whom were hepatitis C antibody‐negative. Participants' average injecting trajectory was 19 years (6–33), with 66% primarily injecting heroin, and 34% a crack and heroin mix. Nine (26%) of the sample were female and the average age was 39 years (23–53). Measurements Two interviews were conducted with each participant, with the second interview incorporating reference to a computer‐constructed life history time‐line. Interview accounts were audiorecorded, transcribed verbatim and analysed thematically. Findings Hepatitis C risk awareness was recent and deprioritized by the majority of participants. The facilitation of venous access and care was an initial and enduring rationale for safe injecting practices. Difficult venous access resulted in increased contamination of injecting environments and transitions to femoral injecting. Participants expressed an unmet desire for non‐judgemental venous access information and advice. Conclusions Harm reduction interventions which attend to the immediate priorities of people who inject drugs, such as venous access and care, have the potential to re‐engage individuals who are jaded or confused by hepatitis C prevention messages.