Ethiopian Journal of Health Sciences最新文献

{"title":"Evaluation of Maternal and Neonatal Risk Factors in the Transmission of Toxoplasmosis: A Study on the Detection of Toxoplasma gondii Antibodies in Cord Blood.","authors":"Onosakponome Evelyn Orevaoghene, Clement Ugochukwu Nyenke, Roseanne Adah Ikpeama, Wagwu Victoria Chioma","doi":"10.4314/ejhs.v35i4.6","DOIUrl":"10.4314/ejhs.v35i4.6","url":null,"abstract":"<p><strong>Background: </strong>Toxoplasmosis, a neglected tropical disease caused by the parasite Toxoplasma gondii, is among the most common congenital infections worldwide, particularly in developing countries. The infection can be transmitted through cord blood-the blood remaining in the placenta after childbirth. This study investigates the presence of Toxoplasma gondii in cord blood and examines associated maternal and neonatal factors.</p><p><strong>Methods: </strong>This study was conducted at the Rivers State Teaching Hospital in Port Harcourt. A total of 180 cord blood samples were randomly collected from newborns in the labor ward, following ethical approval. The samples were analyzed for Toxoplasma gondii IgG antibodies using enzyme-linked immunosorbent assay (ELISA). Maternal and neonatal data were collected through structured questionnaires, and statistical analysis was performed using the Statistical Package for the Social Sciences (SPSS).</p><p><strong>Results: </strong>The findings revealed that 36.7% of the cord blood samples tested positive for Toxoplasma gondii. Maternal age, education level, and occupation were not significantly associated with infection prevalence. However, specific maternal risk factors-including lack of awareness, consumption of undercooked meat, poor hand hygiene, and consumption of unwashed fruits and vegetables-were associated with increased prevalence. Notably, a significant correlation was observed between low birth weight (1.6-2.5 kg) and higher infection rates, with a 25% prevalence in this subgroup.</p><p><strong>Conclusion: </strong>The high prevalence of toxoplasmosis identified in this study emphasizes the need for increased public health education and awareness regarding the disease and its implications for newborns. Routine screening and appropriate treatment for pregnant women are recommended to reduce the rate of congenital transmission.</p>","PeriodicalId":12003,"journal":{"name":"Ethiopian Journal of Health Sciences","volume":"35 4","pages":"267-273"},"PeriodicalIF":1.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13077164/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Myopia Prevalence and Associated Factors among Secondary School Students in Finote Selam Town, Northwest Ethiopia.","authors":"Abebizuhan Zigale Bayabil, Getenet Shumet Birhan, Betelhem Temesgen Yibekal, Biruk Lelisa Eticha","doi":"10.4314/ejhs.v35i4.4","DOIUrl":"10.4314/ejhs.v35i4.4","url":null,"abstract":"<p><strong>Background: </strong>Myopia is a common refractive error where light rays from distant objects focus in front of the retina when accommodation is relaxed. It is a major public health issue and one of the leading causes of blindness and visual impairment, with varying prevalence globally. This study aimed to determine myopia prevalence and associated factors among secondary school students.</p><p><strong>Methods: </strong>A school-based cross-sectional study was conducted from May 10-June 10, 2023, in which 488 participants from three secondary schools at Finote Selam town were selected by systematic random sampling. Data was collected using pre-tested, structured questionnaire and ophthalmic examination. The data were entered into Epi Data 4.6, then exported and analyzed using SPSS version 25. Descriptive analysis was summarized using frequency, percentage, and summary statistics. Binary logistic regression was used to determine the associated factors, with significance considered a p-value of less than 0.05 and a confidence interval of 95 in multivariable logistic regression.</p><p><strong>Results: </strong>A total of 488 study participants with a response rate of 98.99% were involved in the study. The mean age of subjects was 17.36 years. The prevalence of myopia was 15.37 % (95%CI: 11.93-19.10). The factors associated with myopia were gender (AOR=2.63;95%CI:1.41-4.92), residence (AOR=2.04;95%CI:1.08-3.86), family income (AOR=3.43;95%CI:1.74-6.75), family spectacle use (AOR=2.17;95%CI:l. 10-4.28), habitual working distance (AOR=2.98;95%CI: 1.17-7.58), outdoor activity (AOR=2.47;95%CI:1.22-5.02), and sleep duration (AOR=2.68;95%CI:1.28-5.59).</p><p><strong>Conclusion: </strong>considerable prevalence of myopia has been found on the study area. A total 15.37% participants had myopia. habitual working distance and high socioeconomic status were significantly associated with myopia.</p>","PeriodicalId":12003,"journal":{"name":"Ethiopian Journal of Health Sciences","volume":"35 4","pages":"243-254"},"PeriodicalIF":1.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13077172/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689047","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mapping Peak Expiratory Flow in Healthy Pakistani Adults: Insights from Wah Cantt.","authors":"Aimen Iqbal, Waleed Nasir, Faizan Akram, Robina Mushtaq, Tooba Iqbal, Fatima Nasir","doi":"10.4314/ejhs.v35i4.3","DOIUrl":"10.4314/ejhs.v35i4.3","url":null,"abstract":"<p><strong>Background: </strong>Respiratory assessments frequently utilize Peak Expiratory Flow Rate (PEFR) as a fundamental measure of lung function. However, standard reference ranges may not accurately represent variations across different demographic groups. This study aims to address this gap by examining the variability of PEFR among healthy Pakistani adults.</p><p><strong>Methods: </strong>This cross-sectional study was conducted over a six-month period at a tertiary care hospital in Wah Cantt, Pakistan, involving 400 consenting participants. A consecutive sampling technique was employed. Anthropometric measurements, including height and weight, were obtained using a stadiometer and calibrated weighing scale, respectively. Each participant performed three PEFR maneuvers using a peak flow meter, and the highest value was recorded. Additional data, including age and gender, were collected using a structured proforma. Data was analyzed using SPSS.</p><p><strong>Results: </strong>PEFR showed a strong positive correlation with height (0.616 in males 0.767 in females) and a negative correlation with age (-0.418 in males and -0.115 in females). Male participants exhibited significantly higher PEFR values compared to females.</p><p><strong>Conclusion: </strong>The findings indicate that PEFR is influenced by gender, height, and age. Specifically, males tend to have higher PEFR values; PEFR increases with greater height and decreases with advancing age. These results underscore the importance of considering demographic-specific factors when interpreting PEFR values and support the development of localized reference standards for clinical use.</p>","PeriodicalId":12003,"journal":{"name":"Ethiopian Journal of Health Sciences","volume":"35 4","pages":"237-242"},"PeriodicalIF":1.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13077168/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689058","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Isolation Rate and Antimicrobial Susceptibility Profile of Enterobacteriaceae Isolated from Wastewater of Jimma Medical Center, Jimma, Southwest Ethiopia.","authors":"Hasen Husein, Seid Tiku Mereta, Mekidim Mekonnen, Getenet Beyene","doi":"10.4314/ejhs.v35i4.7","DOIUrl":"10.4314/ejhs.v35i4.7","url":null,"abstract":"<p><strong>Background: </strong>In many developing countries, including Ethiopia, most hospitals and healthcare facilities lack proper wastewater treatment systems. As a result, untreated wastewater is directly discharged directly into nearby water bodies, posing significant environmental and public health risks. This study aimed to determine the isolation rate and antimicrobial susceptibility profile of Enterobacteriaceae species found in wastewater from Jimma Medical Center (JMC).</p><p><strong>Methods: </strong>A cross-sectional study was conducted between July and August 2022 on 60 hospital wastewater samples collected from ten different sites within JMC. Enterobacteriaceae were isolated and identified using standard bacteriological techniques. Antimicrobial susceptibility testing was performed using the Kirby-Bauer disk diffusion method. Data analysis was conducted using SPSS version 25.0 and Microsoft Excel.</p><p><strong>Results: </strong>A total of seven bacterial genera were identified. Escherichia coli (31 isolates, 51.7%) and Klebsiella spp. (27 isolates, 45.0%) were the most frequently isolated species. The isolates exhibited high resistance rates to Amoxicillin-Clavulanic acid (88.4%), Ampicillin (87.0%), Tetracycline (76.5%), and Trimethoprim-Sulfamethoxazole (71.9%). Notably, 101 out of 114 isolates (88.6%) were multidrug-resistant (MDR).</p><p><strong>Conclusion: </strong>The high prevalence of multidrug-resistant Enterobacteriaceae in hospital wastewater indicates a serious public health concern, as these bacteria may serve as reservoirs of resistance genes that can be transferred to other pathogenic strains. This highlights the urgent need for the implementation of effective wastewater treatment systems at healthcare facilities.</p>","PeriodicalId":12003,"journal":{"name":"Ethiopian Journal of Health Sciences","volume":"35 4","pages":"274-281"},"PeriodicalIF":1.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13077167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Respiratory Responses during Therapeutic Positioning in Adults with and without Abdominal Obesity.","authors":"Ruchada Sriamad, Thaniya Klinsophon, Premtip Thaveeratitham","doi":"10.4314/ejhs.v35i4.5","DOIUrl":"10.4314/ejhs.v35i4.5","url":null,"abstract":"<p><strong>Background: </strong>Body positioning is commonly employed in hospitals and intensive care units to enhance respiratory function and minimize complications. While excess abdominal fat is known to affect respiratory mechanics, its impact across various body positions remains unclear.</p><p><strong>Methods: </strong>This study included 52 participants, categorized into normal weight and abdominal obesity groups. Respiratory parameters-including tidal volume (V_T), minute ventilation (V_E), oxygen consumption (VO₂), carbon dioxide production (VCO₂), end-tidal oxygen (PETO₂), end-tidal carbon dioxide (PETCO₂), and metabolic equivalent (MET)-were measured after 40 minutes in five different positions: Fowler's, right lateral, left lateral, supine, and prone. Measurements were obtained using a metabolic stress testing system. A two-way linear mixed-effects model was used to compare outcomes across body positions and participant groups.</p><p><strong>Results: </strong>Prone positioning resulted in the highest V_T and V_E in both the normal weight (450.6 ± 112.5 ml; 6.9 ± 1.2 l/min) and abdominal obesity groups (630.2 ± 172.9 ml; 9.3 ± 2.4 l/min) (p < 0.01). VO₂ and VCO₂ were also highest in the prone position for both the normal weight (207.8 ± 43.2 ml/min; 196.6 ± 36.8 ml/min) and abdominal obesity groups (264.8 ± 83.3 ml/min; 250.7 ± 75.9 ml/min) (p < 0.01). MET values peaked in the prone position across both groups. VO₂ and VCO₂ were significantly higher in the abdominal obesity group when in the prone position.</p><p><strong>Conclusions: </strong>The prone position was the most effective in improving ventilation and metabolic responses in both normal weight and abdominal obesity groups, followed by Fowler's. Elevated VO₂ and VCO₂ in individuals with abdominal obesity may reflect increased respiratory and skeletal muscle effort due to excess fat mass.</p>","PeriodicalId":12003,"journal":{"name":"Ethiopian Journal of Health Sciences","volume":"35 4","pages":"255-266"},"PeriodicalIF":1.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13077169/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Breastfeeding in Women with Postpartum Depression: A Systematic Review and Meta-Analysis.","authors":"Maryam Zamani, Rasoul Alimi, Sedigheh Abdollahpour, Elham Azmoude","doi":"10.4314/ejhs.v35i4.10","DOIUrl":"10.4314/ejhs.v35i4.10","url":null,"abstract":"<p><strong>Background: </strong>Postpartum depression has been associated with difficulties in initiating and sustaining breastfeeding. While several observational studies have explored this relationship, their findings remain inconsistent, and comprehensive meta-analyses are limited. This study aimed to evaluate breastfeeding practices among women experiencing postpartum depression.</p><p><strong>Methods: </strong>A systematic literature search was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, covering publications from inception through April 2023. Databases searched included MEDLINE via PubMed, Scopus, Web of Science, and Google Scholar. Search terms included both medical subject headings and relevant keywords: \"Breast Feeding,\" \"Breast Milk Expression,\" \"Exclusive Breastfeeding,\" \"Breastfeeding,\" \"Postnatal Depression,\" \"Postpartum Depression,\" \"Puerperal Depression,\" \"Lactation,\" \"Human Milk,\" and \"Breast Milk.\" Only studies utilizing the Edinburgh Postnatal Depression Scale (EPDS) were included. The quality of the included studies was assessed using the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) checklist.</p><p><strong>Results: </strong>Of the 1,514 articles screened, nine met the eligibility criteria. The findings indicate that women with postpartum depression had significantly higher odds of practicing nonexclusive breastfeeding compared to those without depression (OR = 2.25; 95% CI: 1.46-3.45; P < .001). A subgroup analysis of studies using an EPDS cut-off score of ≥12 revealed that non-exclusive breastfeeding was 71% more likely among women with depressive symptoms (OR = 1.71; 95% CI: 1.40-2.08).</p><p><strong>Conclusions: </strong>Postpartum depressive symptoms are significantly associated with an increased risk of discontinuing exclusive breastfeeding. These findings underscore the importance of integrating mental health screening and breastfeeding support into routine postpartum care to identify at-risk women and implement timely interventions that can enhance both maternal and neonatal outcomes.</p>","PeriodicalId":12003,"journal":{"name":"Ethiopian Journal of Health Sciences","volume":"35 4","pages":"302-311"},"PeriodicalIF":1.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13077166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147688851","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Obesity-related Parameters as Potential Contributors to Increased Headache Frequency in Migraineurs.","authors":"Saima Nazish","doi":"10.4314/ejhs.v35i4.9","DOIUrl":"10.4314/ejhs.v35i4.9","url":null,"abstract":"<p><strong>Background: </strong>Migraine and obesity often coexist, and both generalized and central obesity may influence the frequency and severity of migraine attacks. This study aimed to investigate the association between obesity-related anthropometric measures and headache burden in individuals with migraine.</p><p><strong>Methods: </strong>This observational study was conducted at King Fahad Hospital of the University, Saudi Arabia, and included 186 patients diagnosed with migraine. Anthropometric data were collected at baseline and again after a minimum follow-up period of 12 months. Headache frequency and severity were evaluated, alongside clinical variables such as dietary habits and medication adherence.</p><p><strong>Results: </strong>Elevated body mass index (BMI), waist circumference (WC), and waist-to-height ratio (WHtR) were observed in 43.1%, 67.2%, and 41.4% of participants, respectively. At follow-up, 51.6% of patients reported an increase in headache frequency, with significantly higher BMI values among this subgroup (p = 0.018). Increased headache frequency was significantly associated with elevated BMI (p = 0.029), high WHtR (p = 0.023), and follow-up increases in both body weight and WC (p < 0.01). However, in multivariate logistic regression analysis, only follow-up increases in weight and WC remained marginally associated with increased headache frequency (OR: 1.94, 95% CI: 0.97-3.89; p = 0.05). Baseline values for BMI, WC, and WHtR were not independent predictors.</p><p><strong>Conclusion: </strong>While obesity-related measures were prevalent among migraine patients, they were not independent predictors of increased headache frequency when behavioral factors were considered. These findings underscore the need for a comprehensive approach to migraine management, emphasizing lifestyle modifications.</p>","PeriodicalId":12003,"journal":{"name":"Ethiopian Journal of Health Sciences","volume":"35 4","pages":"294-301"},"PeriodicalIF":1.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13077165/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147689117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Preliminary Study of Morphological Variability in the Circle of Willis and Its Clinical Significance in Ethiopia: A Cadaveric Study.","authors":"Guta Bulcha, Asegedech Bekele, Abebe Muche","doi":"10.4314/ejhs.v35i3.6","DOIUrl":"10.4314/ejhs.v35i3.6","url":null,"abstract":"<p><strong>Background: </strong>The Circle of Willis (COW) is a vital cerebral arterial network that maintains balanced blood flow in the brain. Despite initial insights from Thomas Willis, recent research has highlighted its complex anatomical variations.</p><p><strong>Objective: </strong>This study aims to evaluate the anatomical variations of the COW in Ethiopian cadavers.</p><p><strong>Methods: </strong>We employed a descriptive observational approach on thirty-two cadavers. Detailed morphological examinations of the COW were performed following meticulous dissection at various Ethiopian universities.</p><p><strong>Results: </strong>Significant anatomical variations were observed, particularly in the anterior divisions of the COW, with 57.14% of cases exhibiting notable differences. Variations in the anterior communicating artery (62.5%) and anterior cerebral artery (37.5%) were particularly diverse. In the posterior segment, 66.6% of anomalies involved unilateral right hypoplastic posterior communicating arteries, and bilateral hypoplastic posterior cerebral arteries were noted in two male cadavers. Essential vessels were present in all specimens.</p><p><strong>Conclusion: </strong>Comparative analysis with global studies reveals both similarities and differences, highlighting genetic and methodological influences. Recognizing these variations is crucial for diagnosing cerebrovascular diseases and managing intracranial aneurysms. Further longitudinal studies using advanced imaging techniques are recommended to enhance understanding in the Ethiopian population and beyond.</p>","PeriodicalId":12003,"journal":{"name":"Ethiopian Journal of Health Sciences","volume":"35 3","pages":"185-191"},"PeriodicalIF":1.5,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12287710/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144729001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Road Traffic Injury Characteristics, Severity, and Management Outcome among Victims Treated at the Emergency Department of Jimma Medical Center, Jimma, Ethiopia, 2024.","authors":"Demuma Amdisa, Netsanet Workneh, Leta Alemu, Getachew Tilahun, Nega Jibat, Shemsedin Amme","doi":"10.4314/ejhs.v35i3.8","DOIUrl":"10.4314/ejhs.v35i3.8","url":null,"abstract":"<p><strong>Background: </strong>Road traffic injuries (RTIs) are a significant public health and development challenge. This study assessed injury characteristics, severity, and management outcomes of RTI victims at Jimma Medical Center, Jimma, Ethiopia.</p><p><strong>Method: </strong>A retrospective chart review was conducted on RTI victims treated at the Emergency Department of Jimma Medical Center between September 2021 and June 2022. The World Health Organization's Road traffic injury surveillance tool and the Kampala Trauma Score II (KTS II) were used to evaluate injury severity. Data were entered using EpiData version 3.4 and analyzed with SPSS version 20. Descriptive statistics and cross-tabulations were used in the analysis.</p><p><strong>Results: </strong>Of the 391 victims included, 270 (69.1%) were male, with a median age of 25 years. Pedestrians (52.9%, n=207) were the most affected group, followed by drivers (17.4%, n=68). Cars accounted for over half of the accidents (52.2%, n=204), while motorcycles were involved in 31.7% (n=124). Musculoskeletal (35.5%) and head injuries (25.6%) were the most common. Severe injuries were reported in 62.2% (n=140) of cases. Fewer than half (44.5%, n=174) of the victims were transported by ambulance, and only 21% (n=82) received first aid from healthcare providers. Most victims (93.5%, n=359) survived, while 6.4% (n=25) died.</p><p><strong>Conclusion: </strong>RTIs present a considerable burden in this setting with pedestrians mostly affected. Targeted interventions should address road safety, enhance pre-hospital care, and improve medical documentation. A multi-sectoral injury surveillance system and identification of key risk factors are essential for reducing RTI impacts.</p>","PeriodicalId":12003,"journal":{"name":"Ethiopian Journal of Health Sciences","volume":"35 3","pages":"199-204"},"PeriodicalIF":1.5,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12287709/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144729027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"SGCE Myoclonus Dystonia: A Case Report.","authors":"Endayen Deginet, Melatemariam Tewoflos, Yared Nigusie Abebe","doi":"10.4314/ejhs.v35i3.11","DOIUrl":"10.4314/ejhs.v35i3.11","url":null,"abstract":"<p><strong>Background: </strong>SGCE myoclonus dystonia is a rare genetic movement disorder caused by mutations in the SGCE gene. It typically presents in childhood and is characterized by myoclonus and dystonia. The inheritance pattern is autosomal dominant with maternal imprinting. Patients often exhibit associated psychiatric disorders, although cognitive function remains intact. Treatment includes antiseizure medications for myoclonus and anticholinergic agents or botulinum toxin for dystonia. Deep brain stimulation may be used for severe cases.</p><p><strong>Case presentation: </strong>We present the case of a 2-year-old female who developed dystonia in her lower limbs over eight months, followed by myoclonus affecting her trunk and extremities. She met her developmental milestones and had no family history of similar conditions. Genetic testing revealed a pathogenic variant of the SGCE gene. She showed improvement with clonazepam.</p><p><strong>Conclusion: </strong>Myoclonus dystonia should be considered in patients presenting with early-onset myoclonus and dystonia. Genetic testing can confirm the diagnosis by identifying SGCE gene mutations. We hope this case increases awareness of SGCE myoclonus dystonia and encourages further research.</p>","PeriodicalId":12003,"journal":{"name":"Ethiopian Journal of Health Sciences","volume":"35 3","pages":"222-224"},"PeriodicalIF":1.5,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12287703/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144729028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}