International Journal of Pediatrics最新文献

{"title":"Carbohydrate Counting as a Precision Method for Glycemic Control in Youth With Type 1 Diabetes: A Systematic Review and Meta-Analysis.","authors":"Poliana Viana Guarçoni, Luiz Gustavo Ribeiro Silva, Raquel Fonseca Sales, Tiago Ricardo Moreira","doi":"10.1155/ijpe/5532465","DOIUrl":"10.1155/ijpe/5532465","url":null,"abstract":"<p><strong>Background: </strong>Although carbohydrate counting is a recommended method for managing diabetes, it is not widely used by patients with Type 1 diabetes mellitus. Aiming to emphasize the importance of this method, this study is aimed at quantitatively assessing the effectiveness of carbohydrate counting in reducing HbA1c levels in children and adolescents with Type 1 diabetes mellitus.</p><p><strong>Methods: </strong>Studies published between January 1993 and August 2024 were selected from the EMBASE, PubMed Central (PMC), Wiley Online Library, and ScienceDirect, without language restrictions. The primary outcome was to evaluate the reduction in HbA1c, comparing children and adolescents with Type 1 diabetes mellitus who did or did not use carbohydrate counting.</p><p><strong>Results: </strong>The results were synthesized through a meta-analysis of the absolute mean difference in HbA1c between the groups. Seven studies were included in the meta-analysis, involving a total of 599 individuals, with 276 in the control group and 323 in the intervention group. When compared to the control group, all carbohydrate counting methods resulted in a reduction in HbA1c. The variation ranged from -1.35% for the greatest reduction to -0.73% for the smallest reduction, with a final mean of -0.94% (95% CI: -1.13, -0.74). Subgroup analysis showed that the greatest reduction in HbA1c was observed in patients who were experienced in carbohydrate counting and used the automated bolus calculator.</p><p><strong>Conclusions: </strong>This study confirms the effectiveness of carbohydrate counting in reducing HbA1c levels in children and adolescents with Type 1 diabetes mellitus, reinforcing that even the basic form of this strategy represents a valuable and advantageous approach in the management of the disease.</p>","PeriodicalId":51591,"journal":{"name":"International Journal of Pediatrics","volume":"2025 ","pages":"5532465"},"PeriodicalIF":2.2,"publicationDate":"2025-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12752844/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145879358","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":"Effect of Delayed Cord Clamping on Respiratory Infection-Related Encounters in the First 6 Months of Life in an Urban Community Hospital.","authors":"Ronique Gordon, Neelam Neupane, Leidi Pedraza Gonzalez, Luane Bloomfield, Tashalee McGrath-Blagrove, R Jonathan Robitsek, Shirley Pinero-Bernardo, Lourdes Cohen, Lily Q Lew","doi":"10.1155/ijpe/1501028","DOIUrl":"10.1155/ijpe/1501028","url":null,"abstract":"<p><strong>Background/objective: </strong>Delayed umbilical cord clamping (DCC) for 30-60 s after birth is recommended for both term and preterm infants. The additional neonatal blood volume rich in stem cells and immunoglobulins may protect the neonate from infections. We aim to compare the effect of DCC in term newborns on hyperbilirubinemia and respiratory infection-related pediatric emergency department (PED) encounters and hospitalizations within the first 6 months of life.</p><p><strong>Methods: </strong>We conducted a chart review of term infants born between January 1, 2022 and December 31, 2022 and grouped them as either having DCC or not having delayed umbilical cord clamping (nDCC) for 30-60 s after birth. Maternal and newborn characteristics, hyperbilirubinemia, respiratory infection-related PED encounters, hospitalizations, and length of stay in the initial 6 months after birth were compared. Data were analyzed using R software, a <i>p</i> value of < 0.05 was considered statistically significant.</p><p><strong>Results: </strong>Of the 2136 charts reviewed, 659 (31%) were in the DCC group. There were significantly fewer respiratory infection-related PED encounters (<i>p</i> < 0.001), fewer hospitalizations (<i>p</i> = 0.04), and a 5% lower incidence of hyperbilirubinemia in the DCC group (95% CI: 0.86%-8.6%; <i>p</i> = 0.02). The length of stay of each hospitalization was not significantly different between the two groups, <i>p</i> = 0.07.</p><p><strong>Conclusions: </strong>We observed fewer respiratory infection-related PED encounters and hospitalizations in the initial 6 months of life and a lower incidence of hyperbilirubinemia among the infants who had DCC. The increased blood volume and its components appear to be supportive of the neonate's developing immune system as seen in the lower disease burden up to 6 months of age.</p>","PeriodicalId":51591,"journal":{"name":"International Journal of Pediatrics","volume":"2025 ","pages":"1501028"},"PeriodicalIF":2.2,"publicationDate":"2025-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12752858/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145879394","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":"Characteristics of Extremely Preterm Infants Undergoing Procedural Closure of Patent Ductus Arteriosus: A Retrospective Cohort Study.","authors":"N Jayakumar, G Uthayakumaran, S M Boyd, J Mervis, R Halliday, A Webb, H Popat","doi":"10.1155/ijpe/5558870","DOIUrl":"10.1155/ijpe/5558870","url":null,"abstract":"<p><strong>Background: </strong>Patent ductus arteriosus (PDA) is the most common cardiac lesion in preterm newborns. When medical management of a hemodynamically significant PDA is unsuccessful or contraindicated, infants are referred for either transcatheter device closure (TCDC) or surgical ligation. Our objective was to describe the characteristics and outcomes of these infants.</p><p><strong>Methods: </strong>A retrospective cohort study of infants ≤ 30 weeks' gestation undergoing either TCDC or surgical ligation for PDA from January 2009 to April 2023 was undertaken, in a surgical neonatal intensive care unit. Baseline demographics, echocardiographic data, procedural complications, and neonatal outcomes were obtained.</p><p><strong>Results: </strong>A total of 136 infants were included. At the time of referral for PDA closure, infants were 5-145 days old, with a corrected gestational age of 24-50 weeks and PDA diameter of 1.5-4.1 mm. TCDC of PDA was performed in 15 neonates compared with 121 neonates who underwent surgical ligation. Procedural complications and important neonatal outcomes were similar for both groups. While the number of infants undergoing TCDC is increasing, there is a decreasing trend in the total number of surgical PDA closures.</p><p><strong>Conclusions: </strong>This study demonstrates that there is variability in the preclosure demographics and echocardiography characteristics of infants ≤ 30 weeks' gestation referred for procedural PDA closure.</p>","PeriodicalId":51591,"journal":{"name":"International Journal of Pediatrics","volume":"2025 ","pages":"5558870"},"PeriodicalIF":1.3,"publicationDate":"2025-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12680452/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145702903","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":"Clinical, Laboratory Characteristics, and Microorganism Infection Status in Neonates With Meningitis in Vietnam: A Cross-Sectional Descriptive Study.","authors":"Tho Kieu Anh Pham, Binh Thien Nguyen, Phuong Minh Nguyen, Khai Quang Tran","doi":"10.1155/ijpe/1852521","DOIUrl":"10.1155/ijpe/1852521","url":null,"abstract":"<p><strong>Objective: </strong>This study is aimed at describing the clinical and laboratory characteristics and determining the prevalence of microbial pathogens causing neonatal meningitis detected by cerebrospinal fluid (CSF) real-time polymerase chain reaction (PCR).</p><p><strong>Materials and methods: </strong>A cross-sectional descriptive study was conducted on 55 neonates diagnosed with meningitis. Pathogens were identified by using CSF real-time PCR, CSF culture, or blood culture.</p><p><strong>Results: </strong>Late-onset meningitis accounted for 85.5% (47/55) of cases. The most common clinical signs were respiratory distress (56.4%), fever (47.3%), and lethargy (34.5%). The median white blood cell count was 13,560/mm³ (8645-20,709/mm³), and the median absolute neutrophil count was 6063/mm³ (2895-12,508/mm³). C-reactive protein levels were higher in full-term neonates (8.55 mg/L) compared to preterm neonates (6.4 mg/L). The median CSF protein level was 1.4 g/L (1.1-1.73 g/L), with preterm neonates having significantly higher levels (1.59 vs. 1.22 g/L; <i>p</i> = 0.013). Blood cultures identified seven cases. Real-time PCR detected pathogens in only three cases (5.5%). No demographic or clinical factors were found to significantly differ between the groups with and without identified microbial pathogens (<i>p</i> > 0.05).</p><p><strong>Conclusion: </strong>Neonatal meningitis commonly manifests with respiratory distress, fever, and lethargy. While real-time PCR enables the detection of viral and rare pathogens, its limited overall detection rate underscores the importance of early diagnosis based on clinical presentation and CSF analysis rather than exclusive reliance on microbiological evidence, which may delay essential treatment.</p>","PeriodicalId":51591,"journal":{"name":"International Journal of Pediatrics","volume":"2025 ","pages":"1852521"},"PeriodicalIF":1.3,"publicationDate":"2025-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12664718/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145650049","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":"Unraveling the Impact of COVID-19 Lockdowns on Youth Sports and Physical Activity: Insights From a Retrospective Cohort Study in Italy.","authors":"E Lodi, P A Gasparini, A Brusini, M L Poli, G Savino, M G Modena","doi":"10.1155/ijpe/1339516","DOIUrl":"10.1155/ijpe/1339516","url":null,"abstract":"<p><strong>Background: </strong>The COVID-19 pandemic led to widespread societal disruptions, including lockdowns aimed at reducing virus transmission. These measures had a profound impact on physical and mental health, particularly among children and adolescents. The closure of sports facilities and restrictions on outdoor activities resulted in a significant decrease in physical activity levels among this age group.</p><p><strong>Methods: </strong>A cross-sectional survey was conducted among 211 participants attending sports medicine clinics in Northern Italy. The survey is aimed at assessing physical activity levels during three distinct lockdown periods. It gathered data on demographics and tracked trends and changes in physical activity throughout these phases.</p><p><strong>Results: </strong>During the initial lockdown, 37.4% of the youth maintained regular physical activity, primarily at home, with an average of 4 h/week. By October 26, 69.6% of the participants were still engaged in physical activities, with participation stabilizing at 71.0% by the time of the survey. Inferential analyses confirmed that the increase in participation between the first and second phases was statistically significant (<i>p</i> < 0.001, Cohen's <i>h</i> = 0.85), whereas later changes were not significant. Although there was a slight increase in the weekly hours of physical activity, these levels remained below the World Health Organization's recommended guidelines. Average weekly hours of activity showed only a small, nonsignificant increase (<i>p</i> = 0.12, Cohen's <i>d</i> = 0.20). Importantly, in all phases, fewer than 20% of participants met WHO recommendations.</p><p><strong>Conclusions: </strong>The COVID-19 lockdowns significantly disrupted youth physical activity, which was heavily reliant on organized sports clubs. Despite some recovery after the restrictions were lifted, physical activity levels often fell below recommended guidelines. The disruption in physical activity patterns during the pandemic could have long-lasting effects on future health outcomes. The habits established during childhood and adolescence often persist into adulthood, and the significant drop in physical activity during the pandemic may impact health for decades. This highlights the need for targeted strategies and enhanced physical education programs to mitigate the health risks associated with sedentary behaviors.</p>","PeriodicalId":51591,"journal":{"name":"International Journal of Pediatrics","volume":"2025 ","pages":"1339516"},"PeriodicalIF":2.2,"publicationDate":"2025-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12615031/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145543752","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":"Utility of Clinical, Laboratory, and Radiological Parameters for Detecting Hypovolemia in Edematous Children With Steroid-Sensitive Nephrotic Syndrome-A Prospective Observational Study.","authors":"N V Shikha, C Krishnan, P K Aslam, Gomathy Subramaniam, M P Jayakrishnan","doi":"10.1155/ijpe/5040795","DOIUrl":"10.1155/ijpe/5040795","url":null,"abstract":"<p><p>A prospective observational study was conducted in 90 edematous children with steroid-sensitive nephrotic syndrome (SSNS) to determine the prevalence of hypovolemia and also to study the role of surrogate markers like severe edema, high hematocrit, inferior vena cava collapsibility index (IVCCI) ≥ 50%, blood urea/creatinine ≥ 100 : 1, and serum albumin < 1.5 gm/dL in identifying hypovolemia. The diagnostic test for hypovolemia was a combination of FeNa < 0.5 and urinary potassium (UK) index ≥ 0.6. One-third of children with SSNS had hypovolemia, of which 50% were symptomatic. High hematocrit was the most sensitive surrogate marker of hypovolemia (80%), followed by serum albumin < 1.5 g/dL (56.6%), IVCCI ≥ 50% (43%), severe edema (36.7%), and blood urea/creatinine ≥ 100 : 1 (33.3%). The specificity for detecting hypovolemia was maximum for IVCCI ≥ 50% (91.6%), followed by blood urea/creatinine ≥ 100 : 1 (90%), serum albumin < 1.5 g/dL (85%), severe edema (81.7%), and hemoconcentration (21.6%).</p>","PeriodicalId":51591,"journal":{"name":"International Journal of Pediatrics","volume":"2025 ","pages":"5040795"},"PeriodicalIF":1.3,"publicationDate":"2025-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12611466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145514722","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":"From Policy to Practice: The Achievements, Challenges, and Outlook of Birth Registration in Ghana.","authors":"Sylvester Kyei-Gyamfi, Frank Kyei-Arthur, Stephen Afranie, Seth Bosompem Kissi, Amanda Kyei-Gyamfi","doi":"10.1155/ijpe/8458061","DOIUrl":"10.1155/ijpe/8458061","url":null,"abstract":"<p><p>Birth registration is a fundamental human right that serves as the first legal recognition of an individual's existence, yet global rates remain uneven, particularly in developing nations like Ghana. This paper employs a human rights-based approach (HRBA) to analyze Ghana's birth registration system, highlighting historical, administrative, and legal developments while assessing progress and persistent obstacles. Using a desk review methodology, the study synthesizes findings from government documents, scholarly articles, and reports from international organizations. It reveals that Ghana's birth registration framework, though improved through digitalization and integration with health services, still faces significant challenges including infrastructural disparities between urban and rural areas, cultural barriers, and gender biases. The study underscores the necessity for effective policy implementation that prioritizes inclusivity and addresses systemic barriers, framing birth registration not merely as an administrative task but as a critical component of governance and social equity. Ultimately, it questions whether birth registration in Ghana is a national priority or has become a neglected necessity.</p>","PeriodicalId":51591,"journal":{"name":"International Journal of Pediatrics","volume":"2025 ","pages":"8458061"},"PeriodicalIF":1.3,"publicationDate":"2025-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12614733/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145543744","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":"Environmental Factors Associated With Celiac Disease in Children in Southeast Iran: A Case-Control Study.","authors":"Elahenaz Parsimood, Yeganeh Azhdary Moghaddam, Touran Shahraki, Ali Nemati","doi":"10.1155/ijpe/8824734","DOIUrl":"10.1155/ijpe/8824734","url":null,"abstract":"<p><strong>Background: </strong>Celiac disease (CD) is a systemic autoimmune disease associated with several environmental factors in susceptible individuals. Given the lack of CD-related publications in the Mediterranean region as well as its prevalence in southeastern Iran, we decided to assess its potential risk factors.</p><p><strong>Methods: </strong>In this case-control study, 200 children (100 CD and 100 non-CD patients) were recruited via convenience sampling. A survey assessing demographic and medical history (especially perinatal and maternal characteristics) was completed. Then, the odds ratios (ORs) were calculated through conditional logistic regression.</p><p><strong>Results: </strong>The risk of developing CD increased based on maternal BMI < 18.5 and > 30 kg/m² (OR: 4.2, 95% CI: 1.3-13.2, and OR: 1.5, 95% CI: 0.6-3.7, respectively), living in rural areas (OR: 6.2, 95% CI: 2.6-14.2), use of antacids (OR: 7.4, 95% CI: 0.9-61.7), positive family histories of CD (OR: 11.8; 95% CI: 4.0-34.9), consanguine marriages (OR: 1.9, 95% CI: 1.1-3.5), and exclusive breastfeeding for 3 months (OR: 11, 95% CI: 1.3-87.6). Furthermore, premature rupture of membranes (OR: 0.489, 95% CI: 0.2-0.9) was associated with lower risks of CD.</p><p><strong>Conclusions: </strong>There is a need to increase awareness of the factors associated with CD in both society and among healthcare providers, to not only reduce exposure but diagnose quicker.</p>","PeriodicalId":51591,"journal":{"name":"International Journal of Pediatrics","volume":"2025 ","pages":"8824734"},"PeriodicalIF":1.3,"publicationDate":"2025-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12578558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145432999","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":"Comparison of Urine Dipstick and Urine Sediment Microscopy With Culture for Diagnosing Pediatric Urinary Tract Infections: A Retrospective Cross-Sectional Study at Tikur Anbessa Hospital, Ethiopia.","authors":"Tajudin Adem, Damte Shimelis, Tesfaye Negasa, Melkamu Siferih","doi":"10.1155/ijpe/6690751","DOIUrl":"10.1155/ijpe/6690751","url":null,"abstract":"<p><strong>Background: </strong>Urinary tract infections are common in children, and early diagnosis is crucial to prevent long-term complications such as renal scarring. While urine culture remains the gold standard, its 24-72-h turnaround time can delay treatment. To expedite diagnosis, rapid tests such as urine dipstick and microscopy are commonly used, but their reliability in resource-constrained settings like Ethiopia is uncertain. This study is aimed at comparing the diagnostic performance of these rapid tests with urine culture in pediatric patients.</p><p><strong>Methods: </strong>A retrospective cross-sectional study was conducted at Tikur Anbessa Specialized Hospital, Ethiopia, from September 2021 to September 2022. The diagnostic performance of urine dipstick tests (nitrites and leukocyte esterase) and urine microscopy for white blood cells (WBCs) was compared to urine culture results, with sensitivity, specificity, PPV, NPV, and diagnostic accuracy calculated.</p><p><strong>Results: </strong>A total of 224 children (mean age 5 years; 50% < 4 years) were included in the final analysis. Dipstick nitrite positivity was low (10.9%), limiting its reliability. Leukocyte esterase positivity was higher in males (56%) than in females (43.2%), with an overall rate of 51.8%. Urine WBC microscopy showed higher positivity in males (52.7%) than in females (35.1%). Urine culture had a higher positivity rate in females (55.4%) than in males (47.3%), with an overall rate of 50%. Dipstick nitrite had high specificity (94.6%) but low sensitivity (16.1%), while leukocyte esterase had moderate sensitivity (59.8%) and specificity (75.9%). Combining dipstick tests improved sensitivity (61.6%) but reduced specificity. Urine WBC microscopy showed 67.0% sensitivity, 73.2% specificity, and 70.1% accuracy, with a 33% false-negative rate.</p><p><strong>Conclusion: </strong>Dipstick nitrites and leukocyte esterase offer a rapid, cost-effective way to detect UTIs in children and guide early treatment, but their limited specificity necessitates confirmatory tests like urine culture or WBC microscopy. Future research should explore novel urinary biomarkers to improve accuracy, minimize invasiveness, and account for age- and sex-specific differences.</p>","PeriodicalId":51591,"journal":{"name":"International Journal of Pediatrics","volume":"2025 ","pages":"6690751"},"PeriodicalIF":1.3,"publicationDate":"2025-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12575015/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145432944","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":"Exploring Current Health Policies on Rare Diseases in Greece: A Narrative Review.","authors":"Pelagia Tsitsani, Theodora Papamitsou, Maria Malliarou, Elpidoforos S Soteriades","doi":"10.1155/ijpe/5572290","DOIUrl":"10.1155/ijpe/5572290","url":null,"abstract":"<p><strong>Background: </strong>Rare diseases are unique. Although they have low prevalence, they constitute a public health priority, affecting more than 350 million people worldwide. Patients are confronted with a complicated environment of sociomedical needs that require a strong public health response.</p><p><strong>Methods: </strong>European countries share allied multinational policies on rare diseases though inequities, delays in diagnosis, and differences between nations exist. Aiming to access the current Greek health policy, a thorough search on publicly published laws, governmental regulations, administrative information on orphan medical products, and associated actions was conducted. Regional health authorities' websites and relevant scientific webinars were extensively exploited and worked through.</p><p><strong>Results: </strong>Greece's national strategy for rare diseases includes creating a framework for screening, diagnosis, and treatment. The plan aligns with the EU recommendation to improve the visibility of rare diseases and ensure equal access to healthcare services. During the last 14 years, the Greek state has adopted the European definition and enacted targeted legislation so that, to date, 39 centers of expertise are certified and functioning, 3 disease-specific patient registries are actively operating, and 82 orphan drugs are reimbursed by the state.</p><p><strong>Conclusions: </strong>This analysis revealed gaps in core sectors: A national central patient registry is lacking, and interoperability between stakeholders can be further enriched and optimized, ensuring patient safety concerns. Health inequities for patients in remote areas should be addressed, and the orphan drug policy should be additionally improved. More research is needed to raise awareness and document patient-centered health policy tactics that drive wellness and treatment programs.</p>","PeriodicalId":51591,"journal":{"name":"International Journal of Pediatrics","volume":"2025 ","pages":"5572290"},"PeriodicalIF":1.3,"publicationDate":"2025-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12566958/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145402747","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}