Clinical and Descriptive Study of Orofacial Clefts in Colombia: 2069 Patients From Operation Smile Foundation

Objective: To describe the population of patients with cleft lip and/or palate (CL/P) in terms of cleft phenotypes, gender, age, ethnic group, family history, clinical presentation (syndromic vs nonsyndromic), some environmental and behavioral factors, and some clinical features. Design: Descriptive retrospective study. Setting: Patients attending the genetics counseling practice in Operation Smile Foundation, Bogotá, Colombia, for over 8 years. Participants: No screening was conducted. All patients requiring clinical genetics assessment in Operation Smile Foundation were included in the study. Results: Left cleft lip and palate (CLP) and nonsyndromic forms were the most frequent types of malformations in this population. Psychomotor retardation and heart disease were the most frequent comorbidities in these patients. A low proportion of mothers exposed to passive smoking during pregnancy was observed and low birth weight accounted for an important number of cases. Aarskog, velocardiofacial, and orofaciodigital syndromes were the most frequent syndromic forms of CLP in this population. Conclusions: In this study, the most frequent type of CL/P was the nonsyndromic complete left CLP. Aarskog, velocardiofacial, and orofaciodigital syndromes were the most frequent syndromic forms of CL/P in this population.

Features of Femtosecond Correction of High Myopia through Small Access

Aim. To modify the calculated parameters of the lenticle extraction refractive surgery through a small access (SMILE), evaluate its safety and clinical efficacy in correcting high myopia.Materials and methods. 34 patients (68 eyes) underwent surgery by a modified SMILE technology under local anesthesia. In all cases, the patients had a high degree of myopia, in 37 % in combination with astigmatism.Uncorrected visual acuity before surgery averaged 0.05 ± 0.11, best corrected visual acuity of 0.94 ± 0.1, the pre-operative spherical refraction component was –7.23 ± 0.75, the cylindrical component was –0.48 ± 0.59.During the operation, to obtain the maximum possible refraction result using the proposed method, the standard operation parameters were changed: the corneal flap thickness was reduced to 100 μm, the neural optical layer by 5 μm, the diameter of the optical zone depended on the residual cornea thickness, which should exceed 280–290 μm. Corneal access was increased by 15–20 degrees.Results. The next day after surgery, monocular uncorrected visual acuity in distance in 73 % of patients was 0.8 or higher, and in 41 % of cases it was equal to or exceeded 1.0. The spherical equivalent on the first day after surgery had a slight hypermetropic shift, which was completely leveled by the year of follow-up. During the surgical intervention and in the postoperative period, no complications were noted.Conclusion. Using the proposed algorithm for calculating the refractive effect of the operation SMILE with a high degree of myopia allows obtaining a high refractive effect and avoiding possible complications.

Establishing a sustainable anaesthetic education programme at Jimma University Medical Centre, Ethiopia

Lack of continuing education and physician anaesthetist support are commonly cited problems amongst Ethiopian anaesthetic providers. Whilst operating at Jimma University Medical Centre (JUMC), Operation Smile volunteers identified a clear need for improvement in anaesthetic care delivery at JUMC. JUMC is a 450-bed university teaching hospital 350 km southwest of Addis Ababa. At the start of this programme it had two physician anaesthetists, with the majority of anaesthesia historically having been provided by non-physician anaesthesia providers. A visiting lecturer programme was established at JUMC in 2012 following collaboration between two consultant anaesthetists, working for Operation Smile and JUMC respectively. UK trainee anaesthetists in their final years of anaesthetic training volunteered at JUMC for periods of two to six months, providing sustainable education and consistent physician anaesthetist presence to support service provision and training. Over its six-year history, nine visiting lecturers have volunteered at JUMC. They have helped establish a postgraduate training programme in anaesthesia, assisting in the provision of a future physician anaesthetist workforce. Four different training courses designed for low- and middle-income countries (LMICs) have been delivered and visiting lecturers have trained local anaesthetists in subsequent course delivery. Patient safety and quality improvement projects have included introducing the World Health Organization Surgical Safety Checklist, Lifebox pulse oximeters, obstetric spinal anaesthesia packs, improving critical care delivery and establishing two post-anaesthetic care units. Development of partnerships on local, national and global platforms were key to the effective delivery of relevant sustainable education and support. Instilling local ownership proved fundamental to implementing change in the local safety culture at JUMC. Sound mentorship from anaesthetic consultant supervisors both in the UK and in Jimma was crucial to support the UK trainee anaesthetists working in a challenging global setting. This model of sustainable capacity building in an LMIC with a significant deficit in its physician workforce could be replicated in a similar LMIC setting.

Diagnostic outcomes of exome gene panel sequencing in patients with unusual syndromic cleft lip/palate phenotypes

Orofacial clefting (OFC) is a common craniofacial birth defect that has a prevalence of 1.2 in 1,000 live births. Syndromic OFC in which patients present with additional developmental deficits are identified to have a strong genetic component. We applied exome gene panel sequencing in a cohort of 14 Colombian patients identified at Operation Smile in Bogota, Colombia, with syndromic orofacial clefting phenotypes and additional features initially suggesting Aarskog-Scott syndrome (AAS). Gene panel sequencing failed to identify any causal variants in the FGD1 gene which underlies this condition, but variants in a number of genes suggest alternative clinical diagnoses across five patients (~36%). The novel variants identified here maps to developmentally important genes including SRCAP, OFD1, NIPBL, GRIN2A and KMT2D6. Our result demonstrates the extensive heterogeneity underlying OFC and emphasises the need for systematic phenotyping of patients with rare conditions. Gene panel sequencing has the potential to cost-effectively resolve ambiguous clinical diagnoses, but rigorous attention should be paid to gene coverage as our results suggest highly variable read depths across individual gene exons and this may reduce the quality of variant calls at specific locations.

What If the Cleft Child is Yours?

<div><p><em>Every 3 minutes, a child is born with a cleft lip or cleft palate and make the child to suffer from hunger and thirst, difficulty with speech and social stigma (Operation Smile, n.d.). Yes, Cleft (lip/palate)<strong> </strong>is usually accompanied with stigma from the society especially when they lack information about it. When a baby is born into the world the whole family rejoices but in the case of the cleft (lip/palate)<strong> </strong>child the parents end up in shock and sadness. It even makes the parents and their families think that having a cleft child is a curse in itself. One of the factors that the parents’ of cleft (lip/palate) child limit themselves from taking their cleft (lip/palate) child to social gathering as they are scared that the society may have a negative attitude towards them. Assumptions about its cause make the parents difficult to adjust to the situation. People would talk behind them discussing about the cause of cleft (lip/palate)<strong> </strong>saying that their parents did something wrong that is the reason why their cleft child is the consequence.</em> <em>Twelve year old twins from a small state (Meghalaya) in India do not want to go to school or play with the other children because they were named as daughters of the devil and ugly simply because they were born with a cleft lip. </em></p></div>

Investing in a Surgical Outcomes Auditing System

Background. Humanitarian surgical organizations consider both quantity of patients receiving care and quality of the care provided as a measure of success. However, organizational efficacy is often judged by the percent of resources spent towards direct intervention/surgery, which may discourage investment in an outcomes monitoring system. Operation Smile's established Global Standards of Care mandate minimum patient followup and quality of care. Purpose. To determine whether investment of resources in an outcomes monitoring system is necessary and effectively measures success. Methods. This paper analyzes the quantity and completeness of data collected over the past four years and compares it against changes in personnel and resources assigned to the program. Operation Smile began investing in multiple resources to obtain the missing data necessary to potentially implement a global Surgical Outcomes Auditing System. Existing personnel resources were restructured to focus on postoperative program implementation, data acquisition and compilation, and training materials used to educate local foundation and international employees. Results. An increase in the number of postoperative forms and amount of data being submitted to headquarters occurred. Conclusions. Humanitarian surgical organizations would benefit from investment in a surgical outcomes monitoring system in order to demonstrate success and to ameliorate quality of care.

Effectiveness of International Surgical Program Model to Build Local Sustainability

Background. Humanitarian medical missions may be an effective way to temporarily overcome limitations and promote long-term solutions in the local health care system. Operation Smile, an international medical not-for-profit organization that provides surgery for patients with cleft lip and palate, not only provides surgery through short-term international missions but also focuses on developing local capacity. Methods. The history of Operation Smile was evaluated globally, and then on a local level in 3 countries: Colombia, Bolivia, and Ethiopia. Historical data was assessed by two-pronged success of (1) treating the surgical need presented by cleft patients and (2) advancing the local capacity to provide primary and ongoing care to patients. Results. The number of patients treated by Operation Smile has continually increased. Though it began by using only international teams to provide care, by 2012, this had shifted to 33% of patients being treated by international teams, while the other 67% received treatment from local models of care. The highest level of sustainability was achieved in Columbia, where two permanent centers have been established, followed by Bolivia and lastly Ethiopia. Conclusions. International missions have value because of the patients that receive surgery and the local sustainable models of care that they promote.