The impact of complex facial surgery provided on a short-term surgical mission.

The long-term consequences of performing facial surgery on patients living in rural Ethiopia are largely unknown. A review of 36 patients who had been treated on a short-term surgical mission (STSM) in the previous 2 years was conducted to evaluate the outcomes of the surgical interventions performed. There was a significant reduction in social isolation following a surgical intervention. Improvements in postoperative self-reported changes were found for facial appearance, facial function, and quality of life. Positive outcomes can be achieved when surgical treatment is performed on a STSM.

Long-term outcomes associated with short-term surgical missions treating complex head and neck disfigurement in Ethiopia: A retrospective cohort study.

BACKGROUND: Long-term follow-up after short-term reconstructive missions is challenging, often due to financial constraints, remote geography and lack of post-operative communication with patients. The aim of this study was to conduct long-term follow-up of patients who have undergone surgery for complex facial disfigurement in Ethiopia. METHODS: A retrospective cohort study was conducted in Ethiopia over a 2-week period between February and March 2017. All patients who were previously operated on by the charity Project Harar were eligible. Data were collected from semi-structured interviews and clinical examinations. RESULTS: Seventy patients (41 males: 29 females) were included in this study. This equates to a follow-up rate of 20% (70/350) of all patients operated on by the charity since 2008. Mean patient age was 26.8 years (range, 3-61 years). The most common pathologies were noma (24%), ameloblastoma (16%) and trauma (11%). The mean follow-up time after final surgery was 47 months (range, 12-180) with an average of 1.3 (range, 1-6) operations per patient. Long-term complications were reported by 30% of patients, with chronic fistula (n = 6) and chronic infection (n = 3) the most common. Following surgery, stigma experienced by patients decreased from 92% to 3%. CONCLUSIONS: This study demonstrates that complex head and neck reconstruction can be safely undertaken in resource-limited settings with improvements in stigma experienced and quality of life for patients. However, despite a decade of experience and refinements, early and late complications do occur, and this should be factored into pre-mission planning and careful follow-up. New, cost-neutral follow-up protocols are being developed.

Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.

In contrast to the progress that has been made toward understanding the genetic etiology of cleft lip with or without cleft palate, relatively little is known about the genetic etiology for cleft palate only (CPO). A common coding variant of grainyhead like transcription factor 3 ( GRHL3) was recently shown to be associated with risk for CPO in Europeans. Mutations in this gene were also reported in families with Van der Woude syndrome. To identify rare mutations in GRHL3 that might explain the missing heritability for CPO, we sequenced GRHL3 in cases of CPO from Africa. We recruited participants from Ghana, Ethiopia, and Nigeria. This cohort included case-parent trios, cases and other family members, as well as controls. We sequenced exons of this gene in DNA from a total of 134 nonsyndromic cases. When possible, we sequenced them in parents to identify de novo mutations. Five novel mutations were identified: 2 missense (c.497C>A; p.Pro166His and c.1229A>G; p.Asp410Gly), 1 splice site (c.1282A>C p.Ser428Arg), 1 frameshift (c.470delC; p.Gly158Alafster55), and 1 nonsense (c.1677C>A; p.Tyr559Ter). These mutations were absent from 270 sequenced controls and from all public exome and whole genome databases, including the 1000 Genomes database (which includes data from Africa). However, 4 of the 5 mutations were present in unaffected mothers, indicating that their penetrance is incomplete. Interestingly, 1 mutation damaged a predicted sumoylation site, and another disrupted a predicted CK1 phosphorylation site. Overexpression assays in zebrafish and reporter assays in vitro indicated that 4 variants were functionally null or hypomorphic, while 1 was dominant negative. This study provides evidence that, as in Caucasian populations, mutations in GRHL3 contribute to the risk of nonsyndromic CPO in the African population.

Insulin injection technique can be taught without hospitalization.

Although hospitalization of the diabetic may be seen as a failure of management, and places the patient in an artificial situation, admission for initiation of insulin therapy is the custom in most Ethiopian hospitals. From January 1987 to January 1988, 144 diabetics were taught insulin injection technique in the Diabetic Clinic of Yekatit 12 Hospital in Addis Ababa, Ethiopia, by two nurses in early morning, six days weekly, sessions. Of these, 85 were inpatients aged 6 to 73 years from all wards, admitted because of ketoacidosis, intercurrent illnesses or rural home. The 59 outpatients, aged 7 to 70 years, attended each morning, and started therapy with 8 to 12 units of Lente insulin daily, the dose being increased every 2 or 3 days by small increments until control was attained. These outpatients needed an average of 4.7 mornings (range 1-13) to learn the technique, and an additional 3 to 4 weeks of frequent checkup to achieve control: several continued their jobs while learning. The method failed with 2 very symptomatic patients; there were no severe hypoglycaemic reactions or other complications. In addition to the financial saving for patients, and reduction of hospital bed use by diabetics, the patients helped and encouraged each other, learning faster than when taught individually as "ill" inpatients.