Targeted genetic and molecular therapies in neurofibromatosis - A review of present therapeutic options and a glimpse into the future.

Neurofibromatosis type 1, the most common phakomatoses, can present with a host of signs and symptoms, usually involving the skin and the peripheral nervous system. It is characterized by a mutation in the neurofibromatosis type 1 gene on chromosome 17q11.2 that codes for the protein neurofibromin. Neurofibromin acts as a tumor suppressor gene by inhibiting rat sarcoma (Ras) activity and its deficiency leads to increased Ras activity, cellular proliferation and tumor formation. This review was conducted to analyze the various targeted therapies at the genetic and molecular level employed to manage the tumors and other clinical presentations associated with neurofibromatosis type 1. Twenty-eight studies of treatment modalities for the conditions associated with neurofibromatosis and which involved either targeted gene therapy or molecular level therapies, including the latest advances, were included in this review. Mitogen-activated protein kinase kinase inhibition, mammalian target of Rapamycin inhibition and Tyrosine kinase inhibition, represent some of the newer treatment options in this category. Although there are a number of trials for providing therapeutic options at the genetic and molecular level for the various physical and psychological morbidities associated with neurofibromatosis type 1, most of them are in the preclinical stage. Increased clinical trials of the molecules and gene therapies could significantly help in managing the various chronic and sometimes, life-threatening conditions associated with neurofibromatosis 1 and these will probably represent the preferred treatment direction of the future.

Simple moulage for improving simulation for objective structured clinical examinations in undergraduate dermatology courses.

BACKGROUND: Objective structured clinical examination (OSCE) is being increasingly used as an assessment tool for undergraduate dermatology courses. One of the practical difficulties in conducting OSCEs in dermatology is getting patients with typical skin lesions which can be used for the whole group to ensure uniformity of assessment. We present a study on the use of simple moulage techniques to create uniform and standardized skin lesions for OSCEs in dermatology. METHODS: As a first step, the dermatology faculty in our department chose the clinical conditions which could be covered by using moulages. The main criteria considered were the importance of the condition to the exam blueprint, ease of making and resistance to handling (should not require frequent retouching). Moulages were created on volunteers after taking consent and the same were used in OSCEs s for a group of 5th-year students (N = 102). Difficulty and discrimination indices were compared between the stations using the moulage and the other stations. Qualitative feedback was obtained regarding the same from both the faculty and the students. RESULTS: There was consensus among the faculty and the majority of the students that the lesions were clearly recognizable. As far as other psychometrics were concerned, average difficulty and discrimination of the stations using the moulage were good (average difficulty index-0.78 and average discrimination index-0.68) and compared favorably with the other stations (average difficulty index-0.77 and average discrimination index-0.57). LIMITATIONS: Limited number of stations included, lack of detailed item analysis and lack of feedback from the simulated patients were the main limitations in this study. CONCLUSION: For most common skin conditions creating moulages to simulate the corresponding lesions is an easy procedure and can be an effective tool to standardize dermatology OSCEs for undergraduates, especially in resource-poor settings.

The association between personality traits and dry eye disease: A cross-sectional study.

PURPOSE: Dry eye disease (DED) is a growing public health concern that causes significant visual disability and interferes with the quality of life. The aim of the study is to analyze the relationship between personality traits and DED symptoms in the eastern region of Saudi Arabia. METHODS: A cross-sectional study was carried out in the Eastern Province of Saudi Arabia in 2018. A total of 613 subjects participated in this study. Ocular surface disease index was first distributed online to assess the subjective symptoms of DED. Then, persons with DED were selectively chosen to be tested by the Big Personality Trait Inventory questionnaire. Data were analyzed using one-way ANOVA test at a level of significance, P < 0.05. RESULTS: 57.7% of the patients reported symptoms of DED. There was a significant positive correlation between DED and neuroticism personality trait. DED severity was found to be significantly correlated in persons with chronic diseases. CONCLUSION: This study suggests that psychological problems have an impact on DEDs in a way that needed to be studied.

Awareness of Ocular Manifestations, Complications, and Treatment of Sickle Cell Disease in the Eastern Province of Saudi Arabia: A Cross-Sectional Study.

AIM: This study aims to assess the level of awareness about the effect of sickle cell disease (SCD) on the eye and vision and factors influencing SCD awareness. SUBJECTS AND METHODS: The study design was cross-sectional and was carried out in 2018 among the general population in the Eastern province of Saudi Arabia. It was conducted using an online, validated questionnaire, after obtaining consent from the participants. The outcome variable was 557. The level of awareness was correlated to demographic information. RESULTS: The study population was 557 Saudi adults. 84 were male and 473 female. Their mean age was 22 ± 23 years. Majority of the participants (57.3%) were not aware that SCD could affect the eye and vision. There was no difference in the knowledge regarding ocular complications of SCD among different ages and sexes. CONCLUSIONS: The result of this study indicates the need for raising the knowledge regarding the disease, its ocular complications, screening methods, and management. Health educations campaigns would be an effective tool in increasing SCD awareness.

Scanning Electron Microscopy Study of Hair Shaft Damage Secondary to Cosmetic Treatments of the Hair.

INTRODUCTION AND BACKGROUND: Cosmetic procedures for hair, such as bleaching, dyeing, and straightening, are commonly used around the world. It has been suggested that excessive use of such procedures can cause damage to the hair shaft. We aimed to assess hair shaft changes using scanning electron microscopy (SEM) in female volunteers who frequently use hair treatment procedures such as bleaching, dyeing, or straightening. METHODS: A cross-sectional, controlled study in a sample of 25 female volunteers (19 study group and 6 controls) in the age group of 18-45 years. The study group was composed of volunteers who regularly used different cosmetic hair treatment procedures such as bleaching, dyeing, and straightening (any one of these or a combination). The control group had never used any specific hair treatment procedure. The hair shaft damage as seen on SEM was assessed using a standardized scoring system and compared among the two groups statistically. The hair shafts were also examined clinically and with light microscopy. RESULTS: No significant differences were seen between the test and control groups with regard to normal clinical examination and light microscopy findings. A higher degree of hair shaft damage was evident under SEM in the study group as compared to the control group. This difference was statistically significant. CONCLUSIONS: Regular use of procedures such as bleaching, dyeing, or straightening can lead to subtle changes in the hair shaft which can be detected early by SEM.

Validation of a computer based objective structured clinical examination in the assessment of undergraduate dermatology courses.

Many teaching centers have now adopted objective structured clinical examination (OSCE) as an assessment method for undergraduate dermatology courses. A modification of the standard OSCE in dermatology is computer based or electronic OSCE (eOSCE). We attempted to validate the use of a computer-based OSCE in dermatology in a group of fifth year medical students. The scores of the students in the computer-based OSCE showed a strong positive correlation with the scores on the clinical presentation (Pearson's co-efficient - 0.923, P value <0.000, significant at the 0.01 level) and a good correlation with overall scores of the student (Pearson's co-efficient - 0.728, P value <0.000, significant at the 0.01 level), indicating that this is a reliable method for assessment in dermatology. Generally, the students' feedback regarding the methods was positive.