Potocki-Lupski Syndrome in Ethiopian Child: A Case Report.

Background: Potocki-Lupski syndrome (PTLS) is a rare developmental disorder resulting from the partial duplication of the short arm of chromosome 17. Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities. Case Presentation: We present the case of a 5-year-old female patient from Ethiopia diagnosed with Potocki-Lupski syndrome (PTLS)(17p11.2 microduplication) through multiplex ligation-dependent probe amplification (MLPA) testing. This technique identified the duplication of regions of the 17p11.2 chromosome (RAI1, DRC3, USP22, COPS3 and LLGL1). The patient exhibited neurological manifestations including speech delay and mild intellectual disability, along with craniofacial dysmorphism characterized by a triangular face, wide forehead, dental malocclusion, and micrognathia. Conclusion: A multidisciplinary team approach is imperative for managing patients with PTLS. Parental counseling and genetic advice are crucial for families with children affected by PTLS.

Unusual Cause of Persistent Epistaxis with Severe Anemia in a Child.

Epistaxis in children can be caused by different systemic and local pathologies. Respiratory infections, nasal mucosa dryness, and foreign bodies are some local causes of bleeding from the nose. In developing countries, infestations still contribute a significant proportion of anemia in children. But it is very unusual for leech-causing persistent epistaxis with a consequence of severe anemia. We herein report a rare cause of severe anemia in a 5-year-old child presented to our clinic for persistent epistaxis. A leech was taken out with forceps, and his anemia was treated accordingly.

Innovative approach for potential scale-up to jump-start simplified management of sick young infants with possible serious bacterial infection when a referral is not feasible: Findings from implementation research.

BACKGROUND: Neonatal bacterial infections are a common cause of death, which can be managed well with inpatient treatment. Unfortunately, many families in low resource settings do not accept referral to a hospital. The World Health Organization (WHO) developed a guideline for management of young infants up to 2 months of age with possible serious bacterial infection (PSBI) when referral is not feasible. Government of Ethiopia with WHO evaluated the feasibility of implementing this guideline to increase coverage of treatment. OBJECTIVE: The objective of this study was to implement a simplified antibiotic regimen (2 days gentamicin injection and 7 days oral amoxicillin) for management of sick young infants with PSBI in a programme setting when referral was not feasible to identify at least 80% of PSBI cases, achieve an overall adequate treatment coverage of at least 80% and document the challenges and opportunities for implementation at the community level in two districts in Tigray, Ethiopia. METHODS: Using implementation research, we applied the PSBI guideline in a programme setting from January 2016 to August 2017 in Raya Alamata and Raya Azebo Woredas (districts) in Southern Tigray, Ethiopia with a population of 260884. Policy dialogue was held with decision-makers, programme implementers and stakeholders at federal, regional and district levels, and a Technical Support Unit (TSU) was established. Health Extension Workers (HEWs) working at the health posts and supervisors working at the health centres were trained in WHO guideline to manage sick young infants when referral was not feasible. Communities were sensitized towards appropriate home care. RESULTS: We identified 854 young infants with any sign of PSBI in the study population of 7857 live births. The expected live births during the study period were 9821. Assuming 10% of neonates will have any sign of PSBI within the first 2 months of life (n = 982), the coverage of appropriate treatment of PSBI cases in our study area was 87% (854/982). Of the 854 sick young infants, 333 (39%) were taken directly to a hospital and 521 (61%) were identified by HEW at health posts. Of the 521 young infants, 27 (5.2%) had signs of critical illness, 181 (34.7%) had signs of clinical severe infection, whereas 313 (60.1%) young infants 7-59 days of age had only fast breathing pneumonia. All young infants with critical illness accepted referral to a hospital, while 117/181 (64.6%) infants with clinical severe infection accepted referral. Families of 64 (35.3%) infants with clinical severe infection refused referral and were treated at the health post with injectable gentamicin for 2 days plus oral amoxicillin for 7 days. All 64 completed recommended gentamicin doses and 63/64 (98%) completed recommended amoxicillin doses. Of 313 young infants, 7-59 days with pneumonia who were treated by the HEWs without referral with oral amoxicillin for 7 days, 310 (99%) received all 14 doses. No deaths were reported among those treated on an outpatient basis at health posts. But 35/477 (7%) deaths occurred among young infants treated at hospital. CONCLUSIONS: When referral is not feasible, young infants with PSBI can be managed appropriately at health posts by HEWs in the existing health system in Ethiopia with high coverage, low treatment failure and a low case fatality rate. Moreover, fast breathing pneumonia in infants 7-59 days of age can be successfully treated at the health post without referral. Relatively higher mortality in sick young infants at the referral level health facilities warrants further investigation.

Determinants of delayed diagnosis among pediatric cancer patients from Ayder Comprehensive Specialized Hospital, Mekelle, Northern Ethiopia.

BACKGROUND: Despite advances in the field of pediatric oncology, cancer remains a leading cause of death in children. The delays in cancer diagnosis may occur throughout the diagnostic pathway. Diagnosis of childhood cancer as early as possible is crucial to reduce mortality. The aim of this study was to identify determinants of delayed diagnosis among pediatric cancer patients in Ayder Comprehensive Specialized Hospital, Northern Ethiopia. METHOD: Facility based cross-sectional study was conducted among pediatric cancer patients aged less than 18 years. Data collection was done by interviewer-administered structured questionnaire from the volunteer primary caregiver from 1st September 2017 to 30th August 2018. The data was checked and cleaned by principal investigator on daily basis during data collection for completeness, consistencies, then coded, entered and analyzed using SPSS version 21 software. Diagnosis delay was considered significant when it is above the 3rd quartile. Binary logistic regression analysis was used to test associations between each of the determinant factors and the dependent variable. Variables with P-value < 0.25 during bivariate analysis were fed to the multivariate logistic regression model. Finally, variables with P-value < 0.05 were considered as determinants of delayed diagnosis. RESULTS: From a total of 102 patients, 71(69.6%) had delayed diagnosis. Children older than 10 years of age were four (AOR = 4.01; 95%CI = 1.55-12, P < 0.001) times more likely to get delayed compared to under five children. Rural residence (AOR = 3.3; 95%CI = 1.24-10.24, P < 0.001), uneducated parents (AOR = 3.4; 95%CI = 1.91-13.25, P = 0.009), parents with monthly income less than 1000 ETB (AOR = 6.1; 95%CI = 1.76-7.23, P < 0.001), absence of health insurance (AOR = 2.4; 95%CI = 1.50-3.50, P = 0.02), visit to holy water (AOR = 3.4;95%CI = 1.6-7.2) and those who think cancer is incurable (AOR = 2.7;95%CI = 1.3-14,P = 0.004) were also likely to be delayed. CONCLUSION: Delayed diagnosis of childhood cancer was a major issue and most influenced by the child's age, residency, family's socioeconomic status, parental education, health insurance, use of holy water and caregivers perception on curability of cancer. Thus; every effort should be made to promote public and parental awareness of childhood cancer and promoting health insurance.