Global Ophthalmology Practice Patterns during COVID-19 Pandemic and Lockdown.

AIM: To assess the impact of practice patterns amongst global ophthalmologists during severe acute respiratory syndrome Coronavirus 2 (SARS Cov2) causing Corona virus disease (COVID-19) and understand the various modifications made to address emergency surgeries and practice needs. METHODS: An online survey was sent to practicing ophthalmologists around the world through email, Whatsapp™ ListServ17.0™ (for pediatric ophthalmologists), WeChat™ (China) and ophthalmology associations (Indonesia, Philippines, Ireland). All queries were collected and categorized. Responses to the queries were given according to the recommendations by the Ophthalmology association. Practices ability to deal with the COVID were also classified according to country and type of access to PPE. Statistical analyses of the association between these data and queries, where appropriate were carried out. RESULTS: One thousand nine hundred sixteen ophthalmologists were invited to participate in a survey between April 10th and April 30th, 2020 of which 1207 responded, which is a response rate of approximately 63%. The majority of respondents were from India, Indonesia, China, Singapore and the USA. Our study indicates a precipitous drop in surgical procedures with 46% (n = 538) ophthalmologists ceased to operate on their patients and almost 40% (n = 486) were doing less than 25% of their original number of surgeries. The intent to resume elective surgeries was a consideration in 41% (n = 495) after an evaluation of the situation and in consultation with professional bodies. More than 2/3 of the respondents (n = 703) made it a priority to use and mandate their patients to practice physical distancing, wearing masks, and hand dis-infection for protection to limit the spread of infection. CONCLUSION: This global survey provides a real-world assessment of diverse practices that were in various forms of "shut down mode" and circumstances with varying capabilities to deal with COVID. It is unprecedented that the collective wisdom for a curtailment of practice has had an enormous immediate and far reaching implications on the livelihoods of ophthalmologists, their staff, and their families. Nevertheless, ophthalmologists and their staff remain resilient and have adapted to these changes pragmatically.

Effects of home-based occupational therapy telerehabilitation via smartphone for outpatients after hip fracture surgery: A feasibility randomised controlled study.

INTRODUCTION: This study aimed to investigate the effects of a home-based occupational therapy telerehabilitation (TR) via smartphone in enhancing functional and motor performance and fall efficacy for outpatients receiving day hospital rehabilitation after hip fracture surgery in Hong Kong. METHODS: This was a feasibility randomised controlled trial with two groups - an experimental group and a comparison group - and a sample of 31 older adults attending a geriatric day hospital who had undergone hip fracture surgery within 12 weeks of diagnosis. Patients were assessed at baseline, immediately after a three-week intervention and at three-week post-intervention follow-up for motor performance, activities of daily living (ADL) functioning and fall efficacy. The experimental group received a home programme using the Caspar Health e-system and a mobile app for smartphones, while the comparison group received paper-and-pencil instructions for the home programme on a weekly basis for three weeks. RESULTS: Compared to the comparison group, significant improvements in fall efficacy and instrumental ADL performance at post intervention and follow-up were found in the experimental group. However, in the comparison group, inadequate social support was a factor contributing to better muscle strength testing in both the affected and non-affected legs. There were no significant differences between the two groups in regard to the other variables. DISCUSSION: This study supports the potential use of TR via smartphone as an alternative home programme for use in occupational therapy practice with older adults after hip fracture surgery.

Effects of repetitive transcranial magnetic stimulation (rTMS) on craving and substance consumption in patients with substance dependence: a systematic review and meta-analysis.

BACKGROUND AND AIMS: Repetitive transcranial magnetic stimulation (rTMS) is increasingly used as an intervention for treating substance dependence. We aimed to assess evidence of the anti-craving and consumption-reducing effects of rTMS in patients with alcohol, nicotine and illicit drug dependence. METHODS: A systematic review and meta-analysis of 26 randomized controlled trials (RCTs) published from January 2000 to October 2018 that investigated the effects of rTMS on craving and substance consumption in patients with nicotine, alcohol and illicit drug dependence (n = 748). Craving, measured using self-reported questionnaires or visual analog scale, and substance consumption, measured using self-report substance intake or number of addiction relapse cases, were considered as primary and secondary outcomes, respectively. Substance type, study design and rTMS parameters were used as the independent factors in the meta-regression. RESULTS: Results showed that excitatory rTMS of the left dorsolateral pre-frontal cortex (DLPFC) significantly reduced craving [Hedges' g = -0.62; 95% confidence interval (CI) = -0.89 to -0.35; P < 0.0001], compared with sham stimulation. Moreover, meta-regression revealed a significant positive association between the total number of stimulation pulses and effect size among studies using excitatory left DLPFC stimulation (P = 0.01). Effects of other rTMS protocols on craving were not significant. However, when examining substance consumption, excitatory rTMS of the left DLPFC and excitatory deep TMS (dTMS) of the bilateral DLPFC and insula revealed significant consumption-reducing effects, compared with sham stimulation. CONCLUSION: Excitatory repetitive transcranial magnetic stimulation of the dorsolateral pre-frontal cortex appears to have an acute effect on reducing craving and substance consumption in patients with substance dependence. The anti-craving effect may be associated with stimulation dose.

Is adermatoglyphia an additional feature of Kindler Syndrome?

A typical feature of Kindler Syndrome is skin fragility; this condition in currently classified as a form of epidermolysis bullosa. We describe a rarely reported feature of two cases, one sporadic and one familial; both patients noticed acquired adermatoglyphia. The loss of dermatoglyphics could be an additional feature of this syndrome.

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.

Epidermal growth factor receptor (EGFR) signaling is fundamentally important for tissue homeostasis through EGFR/ligand interactions that stimulate numerous signal transduction pathways. Aberrant EGFR signaling has been reported in inflammatory and malignant diseases, but thus far no primary inherited defects in EGFR have been recorded. Using whole-exome sequencing, we identified a homozygous loss-of-function missense mutation in EGFR (c.1283 G>A; p.Gly428Asp) in a male infant with lifelong inflammation affecting the skin, bowel, and lungs. During the first year of life, his skin showed erosions, dry scale, and alopecia. Subsequently, there were numerous papules and pustules--similar to the rash seen in patients receiving EGFR inhibitor drugs. Skin biopsy demonstrated an altered cellular distribution of EGFR in the epidermis with reduced cell membrane labeling, and in vitro analysis of the mutant receptor revealed abrogated EGFR phosphorylation and EGF-stimulated downstream signaling. Microarray analysis on the patient's skin highlighted disturbed differentiation/premature terminal differentiation of keratinocytes and upregulation of several inflammatory/innate immune response networks. The boy died at the age of 2.5 years from extensive skin and chest infections as well as electrolyte imbalance. This case highlights the major mechanism of epithelial dysfunction following EGFR signaling ablation and illustrates the broader impact of EGFR inhibition on other tissues.

Sporadic Kindler syndrome with a novel mutation.

We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene.

Sporadic Kindler Syndrome with a novel mutation / Sindrome de Kindler esporadica com uma mutacao nao descrita previamente

We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene.

Nós relatamos uma paciente feminina de 28 anos com Síndrome de Kindler, uma forma rara de Epidermólise Bolhosa. Clinicamente, ela apresentava alterações cutâneas pigmentares disseminadas, fotossensibilidade e fragilidade da pele e das mucosas desde a infância. O envolvimento mucoso levou à estomatite erosiva e a estenoses esofágica, anal e vaginal, as quais necessitaram de intervenções cirúrgicas. O diagnóstico de Síndrome de Kindler foi confirmado por sequenciamento de DNA, que demonstrou heterozigose composta uma combinação de mutações uma nonsense e outra frameshift (p.Arg110X; p.Ala289GlyfsX7) no gene FERMT1.

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.

Individuals with inherited skin diseases often pose one of the most difficult diagnostic challenges in dermatology. The hunt for the underlying molecular pathology may involve candidate gene screening or linkage analysis, which is usually determined by the initial history, the physical findings and laboratory tests. Recent technical advances in DNA sequencing, however, are shifting the diagnostic paradigm. Notably, next-generation sequencing allows a more comprehensive approach to diagnosing inherited diseases, with potential savings of both time and money. In the setting of a paediatric dermatology genetics clinic in Kuwait, we therefore performed whole-exome sequencing on seven individuals without a priori detailed knowledge of the patients' disorders: from these sequencing data, we diagnosed X-linked hypohidrotic ectodermal dysplasia (two cases), acrodermatitis enteropathica, recessive erythropoietic protoporphyria (two siblings) and localized recessive dystrophic epidermolysis bullosa (two siblings). All these groups of disorders are clinically and genetically heterogeneous, but the sequencing data proved inherently useful in improving patient care and avoiding unnecessary investigations. Our observations highlight the value of whole-exome sequencing, in combination with robust bioinformatics analysis, in determining the precise molecular pathology and clinical diagnosis in patients with genetic skin disorders, notably at an early stage in the clinical evaluation of these often complex disorders and thereby support a new paradigm for future diagnostics.

Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.

Schöpf-Schulz-Passarge syndrome (SSPS; MIM224750) is a rare autosomal recessive form of ectodermal dysplasia that was recently shown to result from mutations in the WNT10A gene. We now report a 59-year-old woman with SSPS in whom a homozygous nonsense mutation (p.Cys107X) in WNT10A was detected. Mutations in this gene may also underlie odonto-onycho-dermal dysplasia and other ectodermal dysplasia syndromes. To date, 16 different WNT10A mutations have been reported, although considerable clinical and molecular overlap exists. This report demonstrates the molecular basis of a further case of SSPS and highlights the clinical features of this unusual ectodermal dysplasia syndrome.

Novel and recurrent FERMT1 gene mutations in Kindler syndrome.

Kindler syndrome (OMIM 173650) is an autosomal recessive condition characterized by skin blistering, skin atrophy, photosensitivity, colonic inflammation and mucosal stenosis. Fewer than 100 cases have been described in the literature. First reported in 1954, the molecular basis of Kindler syndrome was elucidated in 2003 with the discovery of FERMT1 (KIND1) loss-of-function mutations in affected individuals. The FERMT1 gene encodes kindlin-1 (also known as fermitin family homologue 1), a 77 kDa protein that localizes at focal adhesions, where it plays an important role in integrin signalling. In the current study, we describe five novel and three recurrent loss-of-function FERMT1 mutations in eight individuals with Kindler syndrome, and provide an overview of genotype-phenotype correlation in this disorder.

An update on retinal laser therapy.

Since its discovery in the 1940s, retinal photocoagulation has evolved immensely. Although the first photocoagulators used incandescent light, it was the invention of the laser that instigated the widespread use of photocoagulation for treatment of retinal diseases. Laser permits selection of electromagnetic wavelength, energy levels, spot size and pulse duration. These variables are crucial for accurate targeting of retinal tissue and prevention of detrimental side-effects such as central blind spots. There is ongoing clinical research dedicated to optimising such parameters and many innovative modes of laser delivery are now being offered. Laser photocoagulation is the mainstay of treatment for various retinal and macular diseases. Considering the escalating prevalence of such conditions and widespread use of photocoagulation, it is important for optometrists to grasp the basic principles and be aware of new developments in retinal laser therapy.

Intravitreal bevacizumab (Avastin) as a treatment of the neovascular complications of laser-induced chorioretinal anastomosis for nonischaemic central retinal vein occlusion.

PURPOSE: To describe the use of intravitreal bevacizumab followed by sectorial retinal photocoagulation to treat the neovascular complications of laser-induced chorioretinal anastomosis (L-CRA) for nonischaemic central retinal vein occlusion (CRVO). METHODS: Prospective interventional case series of three patients with nonischaemic CRVO who were treated with L-CRA. Patients were followed up every 2 weeks after the laser treatment. If neovascularization occurred at the site of the anastomosis, intravitreal bevacizumab (1.25 mg) was injected followed by laser photocoagulation to areas of retinal ischaemia and the area of retina anterior to the L-CRA 1 week later. Fluorescein angiography was performed to confirm the presence of neovascularization. Best-corrected visual acuity measurements were performed at every visit. RESULTS: Three patients (one woman, two men) with a mean age of 76.3 years developed neovascularization at the L-CRA site and underwent treatment as described with a mean follow-up time of 7 months. The neovascularization developed within 1 month after the laser anastomosis in all three cases. All patients only required one intravitreal bevacizumab injection to control the neovascularization. No complications of the intravitreal injections were noted. CONCLUSIONS: Intravitreal bevacizumab appears to be an effective tool in the immediate control of neovascularization following L-CRA for nonischaemic CRVO. This appears to cause immediate regression of the neovascular frond and allows time for the laser, which is applied subsequently to have its effect.

Surgical team behaviors and patient outcomes.

BACKGROUND: Little evidence exists that links teamwork to patient outcomes. We conducted this study to determine if patients of teams with good teamwork had better outcomes than those with poor teamwork. METHODS: Observers used a standardized instrument to assess team behaviors. Retrospective chart review was performed to measure 30-day outcomes. Multiple logistic regressions were calculated to assess the independence of the association between teamwork with patient outcome after adjusting for American Society of Anesthesiologists (ASA) score. RESULTS: In univariate analyses, patients had increased odds of complications or death when the following behaviors were exhibited less frequently: information sharing during intraoperative phases, briefing during handoff phases, and information sharing during handoff phases. Composite measures of teamwork across all operative phases were significantly associated with complication or death after adjusting for ASA score (odds ratio 4.82; 95% confidence interval, 1.30-17.87). CONCLUSION: When teams exhibited infrequent team behaviors, patients were more likely to experience death or major complication.

Intravitreal bevacizumab (Avastin) for neovascular age-related macular degeneration using a variable frequency regimen in eyes with no previous treatment.

PURPOSE: To evaluate a variable frequency regimen with intravitreal bevacizumab for treatment of neovascular age-related macular degeneration (AMD) in eyes that have not received any previous treatment. METHODS: Retrospective review of patients with neovascular AMD who were treated with three consecutive monthly intravitreal injections of bevacizumab (1.25 mg) and retreated based on the PrONTO study criteria. Outcome measures included visual acuity (VA) and central retinal thickness. Subgroup analysis was conducted to identify pretreatment characteristics that could determine visual outcome with treatment. RESULTS: A total of 109 eyes of 109 patients were treated. The mean age was 82 years, and the mean follow-up period was 9.4 months (range 6-12 months). At baseline, the mean VA was 45.6 letters (6/37.5) and mean central retinal thickness 343 microm. This improved to 51 letters (6/30) (P < 0.001)) and 231 microm (P < 0.001) at 6 months. At 6 months, VA was improved by at least five letters in 50%, remained stable in 30% and worsened by at least five letters in 20% of patients. Patients with large intraretinal cysts on optical coherence tomography before treatment had an increased risk of worse vision (odds ratio 10.5, 95% confidence interval 1.69-64.99; P = 0.018). CONCLUSIONS: The majority of patients had improvement or stability of VA regardless of the angiographic type of choroidal neovascularization. Intravitreal bevacizumab with this tailored regimen is beneficial in the treatment of neovascular AMD in the short term. The presence of large intraretinal cysts on optical coherence tomography is a poor prognostic factor for visual improvement with this treatment.

Correction of involutional lower eyelid medial ectropion with transconjunctival approach retractor plication and lateral tarsal strip.

AIM: We describe the technique and our results in managing lower eyelid involutional medial ectropion using a combination of lateral tarsal strip to address horizontal eyelid laxity, and transconjunctival inferior retractor plication to address inferior retractor dehiscence. METHODS: Patients with symptoms of epiphora or signs of medial ectropion were offered this procedure. All had the following characteristics: medial lower eyelid eversion, punctal eversion >3 mm, medial canthal tendon laxity <4 mm, significant horizontal eyelid laxity and lacrimal systems that were patent to syringing. RESULTS: A total of 24 eyelids of 17 patients underwent this procedure over a 12-month period. The mean age of the patients was 79.7 years; 11 were male and six were female. The mean follow-up time was 18 months. Two eyes had undergone previous surgery. All patients had restoration of the eyelid margin to the globe and relief of symptoms. No complications were noted. DISCUSSION: These results suggest that excision of posterior lamellar tissue is not necessary for correction of involutional medial ectropion. Transconjunctival plication or reattachment of retractors is easy to perform and allows for the repair of more than the medial portion of the retractors if required.