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Purpose: To assess the management of patients with congenital nasolacrimal duct obstruction (CNLDO) in a paediatric population and review the long-term outcomes over a 5-year interval, with particular emphasis on the difference between patients with trisomy 21 and those without trisomy 21. Methods: This single-centre, retrospective, cross-sectional, case review study included patients suffering from CNLDO at Alder Hey Children's Hospital NHS foundation Trust. Patients were divided into two groups: Non-trisomy 21 and trisomy 21. Patients were followed-up for a 60-month interval. Patients aged <12 months at the time of surgery, patients with <60 months of follow-up data and patients with acquired nasolacrimal duct obstruction were excluded. The main outcome measures were discharge rates in patients undertaking primary intervention with syringe and probe (S&P), number of patients requiring further treatment with lacrimal intubation or dacryocystorhinostomy (DCR) and overall symptom-free periods post-treatment. Results: Ninety-three patients (142 eyes) were included. The mean number of surgical interventions was 1.53 ± 0.65. The mean interval between the 1st and 2nd intervention was 15.54 ± 16.33 months. There was a trend towards greater success rates non-trisomy 21 patients versus patients with trisomy 21 (p = 0.1352). The average symptom-free period after the final intervention was 44.31 ± 20.68 months, significantly longer in the non-trisomy 21 group compared to the trisomy 21 group (p = 0.0074). Conclusions: The overall success rate after primary S&P was 55.9%. Our results suggest that in trisomy 21 patients suffering from CNLDO, a one-stage intervention with primary monocanalicular intubation should be considered instead of sequential approach. [ABSTRACT FROM AUTHOR]

We report a rare case of orbital inflammation complicating hemophagocytic lymphohistiocytosis (HLH) patient. HLH is a rare, life-threatening disorder characterized by uncontrolled activation of cytotoxic T lymphocytes, natural killer cells, and macrophages. A 37-year-old man known to have HLH, presented with a left periorbital swelling that was unsuccessfully treated as an orbital cellulitis, with intravenous antibiotics. A computed tomography (CT) scan of the orbits revealed inflammatory changes with no orbital collection or paranasal sinus disease. An orbital biopsy demonstrated lymphoplasmacytic infiltrations admixed with histiocytes. The patient deteriorated and was admitted to the intensive care unit. Ensuing blood results supported a diagnosis of HLH, and the patient responded well to subsequent immunosuppression. This case report highlights the importance of re-considering the diagnosis of orbital cellulitis in treatment resistant cases, particularly in the absence of sinus disease. To our knowledge, this is the third case of orbital inflammation associated with HLH patients. [ABSTRACT FROM AUTHOR]

Immune checkpoints refer to mechanisms entrusted with the modulation of immune responses in peripheral tissues and are required for minimising collateral damage. Immune checkpoint inhibitors (ICPi) work through numerous pathways, including the anti-CTLA-4 (cytotoxic T-lymphocyte-associated protein 4), anti-PD-1 (programmed cell death protein 1) and the PD-L1 (protein cell death protein-ligand-1) pathways. They are proving to be an exciting therapeutic avenue in the attempt to activate anti-tumour activity. Ipilimumab is a fully human monoclonal antibody working on the anti-CTLA-4 pathway, while nivolumab and pembrolizumab are humanised monoclonal IgG4 antibodies that work on the PD-1 pathway. Despite a growing body of research pertinent to these novel therapies, early indications show that they are limited by their side effect profile. Furthermore, their efficacy appears to be greater in cancers with a high mutational burden. We present two female patients with bilateral reactive dacryoadenitis secondary to ICPi therapy, a finding that to the best of our knowledge was not previously described in the literature. [ABSTRACT FROM AUTHOR]

A male patient in his early childhood presented to rheumatology with a hoarse voice and recurrent oral and cutaneous ulceration. Serological investigation revealed persistently elevated inflammatory markers. Despite compliance to treatment, flare-ups persisted, prompting the use of further treatment. An airway endoscopy revealed cystic changes to the left vocal cord. Referral to ophthalmology revealed multiple, waxy, skin-coloured, beaded papules on thickened, irregular eyelid margins with distichiasis, in keeping with moniliform blepharosis. Enrolment into the 100 000-genome project helped clinch the diagnosis of lipoid proteinosis. Although this case highlights the diagnostic power of genetics, it also sheds light on the importance of targeted clinical referral. When one considers the typical symptoms and signs of lipoid proteinosis, referral to a centre of rare diseases would have proven effective in not only avoiding polypharmacy but also reducing the psychological burden of several years of uncertainty must have had on our patient. [ABSTRACT FROM AUTHOR]