Ocular manifestations of renal ciliopathies.

Renal ciliopathies are a common cause of kidney failure in children and adults, and this study reviewed their ocular associations. Genes affected in renal ciliopathies were identified from the Genomics England Panels. Ocular associations were identified from Medline and OMIM, and the genes additionally examined for expression in the human retina ( https://www.proteinatlas.org/humanproteome/tissue ) and for an ocular phenotype in mouse models ( http://www.informatics.jax.org/ ). Eighty-two of the 86 pediatric-onset renal ciliopathies (95%) have an ocular phenotype, including inherited retinal degeneration, oculomotor disorders, and coloboma. Diseases associated with pathogenic variants in ANK6, MAPKBP1, NEK8, and TCTN1 have no reported ocular manifestations, as well as low retinal expression and no ocular features in mouse models. Ocular abnormalities are not associated with the most common adult-onset "cystic" kidney diseases, namely, autosomal dominant (AD) polycystic kidney disease and the AD tubulointerstitial kidney diseases (ADTKD). However, other kidney syndromes with cysts have ocular features including papillorenal syndrome (optic disc dysplasia), Hereditary Angiopathy Nephropathy, Aneurysms and muscle Cramps (HANAC) (tortuous retinal vessels), tuberous sclerosis (retinal hamartomas), von Hippel-Lindau syndrome (retinal hemangiomas), and Alport syndrome (lenticonus, fleck retinopathy). Ocular abnormalities are associated with many pediatric-onset renal ciliopathies but are uncommon in adult-onset cystic kidney disease. However the demonstration of ocular manifestations may be helpful diagnostically and the features may require monitoring or treatment.

Corticosteroid injection versus immobilisation for the treatment of De Quervain's tenosynovitis: A systematic review and meta-analysis.

OBJECTIVE: De Quervain's tenosynovitis causes pain and impairment of thumb function. Conservative treatments comprise corticosteroid injection and immobilization, and it is unclear which offers greater efficacy. Previous reviews were limited by the small number of included studies; thus an updated review and meta-analysis is warranted. METHODS: A systematic review of the PubMed, Embase, and Web of Science databases was conducted. Randomized control trials comparing corticosteroid injection to immobilization were included. Two authors screened articles, extracted data, and assessed the risk of bias of included studies. Meta-analyses using the random-effects model were conducted, calculating pooled relative risks and mean differences with 95% confidence intervals. RESULTS: 16 studies comprising 1206 patients were included. Corticosteroid injection showed greater treatment success than immobilization (relative risk: 1.61; 95% confidence interval: 1.21-2.15). Combining treatments demonstrated greater efficacy than immobilization (relative risk: 2.15; 95% confidence interval: 1.77-2.62) or injection alone (relative risk: 1.23; 95% confidence interval: 1.12-1.34). Pain and disability scores were lower with injection than immobilization and with combined treatment than with either alone. CONCLUSION: Corticosteroid injection is more effective than immobilization for De Quervain's tenosynovitis, and combining the two treatments provides additional benefit. We recommend corticosteroid injection in first line treatment and immobilization as adjuvant therapy. Further research is required regarding optimal corticosteroid and local anesthetic formulations.

Cryptogenic pyogenic liver abscess caused by Fusobacterium necrophorum in an immunocompetent patient.

Pyogenic liver abscesses are potentially fatal conditions that require prompt treatment with drainage and appropriate antimicrobial therapy. Fusobacterium necrophorum is a gram-negative rod that is found in the oral cavity, gastrointestinal tract and female genital tract. It is an extremely rare cause of liver abscess, particularly in the absence of risk factors or exposures. We describe an unusual case of a cryptogenic F. necrophorum hepatic abscess without a clear source despite extensive investigation in a young, immunocompetent patient without known risk factors or exposures for such an infection.

Maternal Cigarette Smoking and Congenital Upper and Lower Limb Differences: A Systematic Review and Meta-Analysis.

Maternal smoking during pregnancy has been associated with adverse effects on foetal development, including congenital limb anomalies. This systematic review aimed to provide an updated assessment of the association between maternal smoking during pregnancy and the risk of congenital limb anomalies. A systematic search was conducted to identify relevant studies published up to February 2023. Studies reporting on the relationship between maternal smoking during pregnancy and congenital digital anomalies or congenital limb reduction defects were included. Two independent reviewers screened the studies, extracted data, and assessed the quality of the included studies. Meta-analyses were performed to estimate the pooled odds ratios with 95% confidence intervals using fixed and random-effects models. In total, 37 publications comprising 11 cohort and 26 case-control studies were included in the systematic review. The meta-analysis demonstrated a significant increased risk of congenital limb reduction defects (pooled OR: 1.27, 95% CI: 1.18-1.38) in infants born to mothers who smoked during pregnancy. Similarly, a significant relationship was observed for the development of polydactyly/syndactyly/adactyly when considered as a single group (pooled OR: 1.32, 95% CI: 1.25-1.40). Yet, in contrast, no significant association was observed when polydactyly (pooled OR: 1.06, 95% CI: 0.88-1.27) or syndactyly (pooled OR: 0.91, 95% CI: 0.77-1.08) were considered individually. This systematic review provides updated evidence of a significant relationship between maternal smoking during pregnancy and increased risk of congenital limb anomalies. These findings highlight the potential detrimental effects of smoking on foetal limb development and underscore the importance of smoking cessation interventions for pregnant women to mitigate these risks.

De novo choroidal osteoma after laser photocoagulation of a peripapillary choroidal neovascular membrane.

We describe the case of a 76-year-old man who developed an asymptomatic choroidal osteoma in the left eye 10 years after receiving retinal laser photocoagulation for treatment of a peripapillary choroidal neovascular membrane. The choroidal osteoma presented as a progressively enlarging, well-circumscribed yellow lesion adjacent to the region of retinal fibrosis. Optical coherence tomography showed a choroidal lesion with superficial lamellations and ultrasonography demonstrated increased echogenicity. The choroidal osteoma was not encroaching on the fovea and is currently being monitored. This is only the third report of a de novo choroidal osteoma developing subsequent to retinal laser photocoagulation.

Estimating malignancy risk of melanocytic choroidal tumours detected in the Australian National Eye Health Survey.

Clinical relevance: The malignant potential of choroidal melanocytic tumours detected incidentally in the community is thought to be low, but this has not been assessed using a validated screening tool. An accurate characterisation of the malignant potential of these lesions has implications for resource allocation, service provision, education, and training.Background: MOLES (Mushroom shape, Orange Pigment, Large size, Enlargement, and Subretinal fluid) categorises tumours as 'common naevus', 'low-risk naevus', 'high-risk naevus', and 'probable melanoma'. The MOLES system recommends that patients with common naevi (score = 0) undergo review by a community optometrist every two years, ideally with sequential colour photography. For the remaining patients (score ≥ 1), specialist imaging and assessment are recommended, with referral triaged as non-urgent for patients with low-risk (score = 1) or high-risk naevi (score = 2) and urgent for patients with probable melanoma (score > 2).Methods: Lesions flagged as choroidal melanocytic tumours on retinal photographs taken during the Australian National Eye Health Survey were retrospectively analysed by an ocular oncologist. Each lesion was assigned a MOLES score and categorised as common, low-risk, high-risk or probable melanoma.Results: Seventy-seven choroidal naevi were identified. Seventy-five (97%) of the choroidal naevi were categorised as common naevi, with a MOLES score of 0. Two (3%) choroidal naevi had a score of 1 and diagnosed as low-risk naevi due to their size. No naevi had a score of 2 or more.Conclusion: All choroidal naevi detected in this nationally representative population survey were innocuous. This suggests that the vast majority of choroidal melanocytic tumours that are incidentally detected in Australia can be managed in primary eye care settings without the need for specialist referral. MOLES provides a simple evidence-based method for choroidal naevi assessment in primary care.