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1.
Am J Case Rep ; 24: e941094, 2023 Nov 15.
Article in English | MEDLINE | ID: mdl-37964513

ABSTRACT

BACKGROUND Charcot-Marie-Tooth disease (CMT) is a hereditary neurological disorder that primarily leads to peripheral neuropathy, characterized by progressive muscle weakness, atrophy, and loss of sensation in the extremities. It can also present with some ocular manifestations, such as glaucoma, nystagmus, and cranial nerve involvement. The purpose of this article was to report a case of severe dry eye disease (DED) possibly associated with Charcot-Marie-Tooth disease. CASE REPORT We report the clinical presentation, workup, and management of a woman diagnosed with CMT type 2EE based on genetic testing who suffered from severe DED sequelae. The patient had regularly followed up in the cornea service at our hospital due to DED for several years. A thorough workup to exclude causes associated with dry eye disease, including rheumatoid factor, erythrocyte sedimentation rate (ESR), anti-nuclear antibody (ANA), anti-Sjögren's-syndrome-related antigen A (anti-SSA), and anti-Sjögren's-syndrome-related antigen B (Anti-SSB), were performed, and all came out negative. She recently presented to the emergency room with redness, tearing, and a decline in visual acuity after minor ocular trauma 3 weeks before her presentation. The slit lamp examination showed central corneal perforation measuring 2×2 mm with a positive Seidel test. The case was managed first by multiple attempts to seal the defect with cyanoacrylate glue, and then a patch corneal graft was performed as the anterior chamber failed to deepen. CONCLUSIONS DED may be one of the many ocular manifestations associated with CMT. Hence, a thorough assessment and multidisciplinary approach, including supportive therapy, are warranted to prevent long-term ocular sequelae, including visual loss.


Subject(s)
Charcot-Marie-Tooth Disease , Dry Eye Syndromes , Sjogren's Syndrome , Female , Humans , Charcot-Marie-Tooth Disease/complications , Charcot-Marie-Tooth Disease/diagnosis , Charcot-Marie-Tooth Disease/genetics , Dry Eye Syndromes/diagnosis , Dry Eye Syndromes/etiology , Dry Eye Syndromes/therapy , Sjogren's Syndrome/diagnosis , Genetic Testing , Atrophy
2.
Clin Ophthalmol ; 16: 3247-3255, 2022.
Article in English | MEDLINE | ID: mdl-36211717

ABSTRACT

Background: Eye injuries in children due to chemicals constitute a medical emergency since they result in severe ocular damage. Objective: To determine the factors and management outcomes of chemical burns in the eyes of Saudi children. The study was performed at a tertiary eye center in the Kingdom of Saudi Arabia. Methods: Children aged 16 years and under who had ocular chemical burns from 2009 to 2021 were enrolled in a single-armed cohort study. Data collection was done on patient demographics, injury type, and previous treatment. A modified Roper-Hall classification was used to grade the ocular injuries. The research study revealed the outcome to be best-corrected visual acuity (BCVA), one year after presentation and management. Results: This study included 185 eyes from 147 children with chemical burns. The main profile of this study comprised the following categories: male (72.1%), grade 4 injury (27.6%), injury by acid (57.1%), burns at home (66%), and first aid was given to (35.4%) of the children. One year after treatment, there were 58 (31.4%) eyes with BCVA from 20/20 to 20/60, 31 cases (16.8%) with BCVA from 20/60 to 20/200, and 86 (46.5%) cases with severe visual impairment (SVI). Treatments included the release of symblepharon in 34 (18.4%) eyes and amniotic membrane transplantation (AMT) in 27 (14.6%) eyes. Poor visual outcomes were correlated with chemical burn severity (RR = 1.45, P=0.04). First aid administration (P = 0.86) and type of chemical (acid vs non-acid) (P = 0.83) did not differ significantly in association with SVI at the one-year follow-up. Conclusion: Visual outcomes of chemical burns in children were not promising even after one year of treatment. Public health initiatives are critical to prevent chemical burns in mitigating the poor visual prognosis.

3.
Saudi Med J ; 39(8): 838-841, 2018 Aug.
Article in English | MEDLINE | ID: mdl-30106424

ABSTRACT

OBJECTIVES: To assess the primary healthcare physicians' adherence to referral guidelines for acute low back pain and if there is any association with experience level.  Methods: A cross-sectional study held in Tertiary care hospital, Riyadh, Kingdom of Saudi Arabia.Questionnaires were distributed in-person between October 2017 and January 2018 among 100 primary healthcare physicians, with a 79% response rate. Results: The distribution between male to female was 43%-57%. Twenty-five percent of physicians encounter 1-5 patients weekly, while 28% encounter more than 15 patients. The physicians included had a higher than expected adherence to referral guidelines with percentages ranging between 63-94% referral rates for back pain related red flags. A trend was noted where there was an increase in referral decisions with increased experience when encountering red flags. More experienced physicians were more likely to refer when encountering; pain worse after prolonged sitting, limited mobility, and pain worse while coughing or sneezing (p less than 0.05). Conclusion: Primary healthcare physicians working in one health system in Riyadh had a higher than expected adherence to referral guidelines for back pain related red flags.


Subject(s)
Guideline Adherence/statistics & numerical data , Low Back Pain/therapy , Physicians, Primary Care/statistics & numerical data , Referral and Consultation/statistics & numerical data , Acute Pain/therapy , Cross-Sectional Studies , Female , Humans , Male , Practice Patterns, Physicians'/standards , Practice Patterns, Physicians'/statistics & numerical data , Referral and Consultation/standards , Saudi Arabia , Surveys and Questionnaires
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