Cogan's Lid Twitch for Myasthenia Gravis: A Systematic Review.

INTRODUCTION: Myasthenia gravis is an autoimmune condition affecting the neuromuscular junction of skeletal muscles and may be difficult to diagnose. Several clinical signs may have diagnostic utility, including Cogan's lid twitch. This systematic review aims to synthesise the literature on the accuracy of Cogan's lid twitch for diagnosing myasthenia gravis. METHODS: A systematic search of the databases PubMed/MEDLINE, Embase and CENTRAL was performed from inception to August 2022. Risk of bias analysis and data extraction were performed in accordance with the PRISMA 2020 guidelines. RESULTS: Seven articles satisfied the inclusion criteria. The results showed that for the diagnosis of myasthenia gravis, Cogan's lid twitch has a sensitivity between 50% and 99% and specificity between 75% and 100%. CONCLUSIONS: Cogan's lid twitch is a physical examination finding with moderate diagnostic performance in the diagnosis of myasthenia gravis with ocular involvement. Future studies may seek to evaluate the performance of Cogan's lid twitch in conjunction with other signs of myasthenia gravis with ocular involvements, such as fatigable ptosis or a positive icepack test.

Investigation of CYP1B1 Gene Involvement in Primary Congenital Glaucoma in Iraqi Children.

PURPOSE: Primary congenital glaucoma (PCG) is a severe type of glaucoma that occurs early in life. PCG is usually inherited in an autosomal recessive pattern. Cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) gene is reported to be PCG-related gene. It codes for the CYP1B1 enzyme which is considered as phase I xenobiotic-metabolizing enzyme and its function is related to the eye oxidative homeostasis and correspondingly to the normal development of the eye. This is the first genetic study in Iraq that investigates the CYP1B1 polymorphisms behind the PCG disease. METHODS: Genomic DNA was extracted from the whole blood of 100 unrelated Iraqi PCG patients and 100 healthy children, all of them were aged between 1 month and 3 years. All the coding sequence of CYP1B1 gene was amplified using polymerase chain reaction; restriction fragment length polymorphism was used to follow G61E and E229K mutations. Direct sequencing was performed to screen for other mutations. RESULTS: CYP1B1 mutations were identified in 78 (78%) of the patients. We detected a total of eight mutations: Four missense mutations (c.182G>A, c.685G>A, g.6813G>A, and g.6705G>A), one silence mutation (D449D) and three insertions (g.10068ins10069, g.10138ins10139, and g.10191ins10192). Five mutations (g.6813G>A, g.6705G>A, g.10068ins10069, g.10138ins10139, and g.10191ins10192) are novel. G61E is the only mutation that was detected in patients merely. CONCLUSIONS: CYP1B1 mutation (G61E) is considered as PCG-related allele in the Iraqi population.

Self-harm and ethnicity: A systematic review.

AIMS: This review will focus on the rates, clinical characteristics, risk factors and methods of self-harm and suicide in different ethnic groups in the United Kingdom, providing an update synthesis of recent literature. METHODS: Studies that met the inclusion criteria between 2003 and 2013 were reviewed using the following databases: MEDLINE, PsycINFO, EMBASE and CINAHL. The methodological quality of each study was then assessed using a structured scoring system. RESULTS: A total of 2,362 articles were retrieved, 10 of which matched the inclusion criteria were reviewed. Significant differences were found in the rates of self-harm between ethnic groups with Asian males being least likely to self-harm and Black females being most likely to self-harm. Also, Black and South Asian people were less likely to repeat self-harm. Factors that may help protect or predispose individuals to self-harm or attempt suicide (such as religion, mental health and coping styles) also differ between ethnic groups. CONCLUSIONS: There are clear ethnic differences in self-harm and suicide, which may be affected by factors such as cultural pressures and prevalence of mental illness. An awareness of these differences is vital to help prevent further attempts of self-harm and suicide. Further research into differences between ethnic and cultural groups and self-harm continues to be important.