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Higher bone mineral density at six years of age in very preterm-born infants fed human milk compared to formula feeding. A secondary analysis of an RCT.
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-01-30 DOI: 10.1007/s00431-024-05935-3
Line H Toftlund, Signe Sparre Beck-Nielsen, Lone Agertoft, Susanne Halken, Gitte Zachariassen

In very preterm-born infants, nutritional intake is important to reduce the risk of severe metabolic bone disease including the risk of a lower bone mineral density (BMD). The aim of this study was to evaluate bone mineral content (BMC) and BMD (measured as BMC per bone area (BA)) at six years of age in very preterm-born infants fed different diets post-discharge. Data on this topic so far is insufficient, and with this study we aim to supply more useful data. A prospective follow-up study of 281 children born very preterm (gestational age ≤ 32 + 0 weeks) and enrolled in a multicentre RCT on post-discharge nutrition. Infants fed human milk (HM) were randomised respectively to be fed unfortified HM (UHM) or fortified human milk (FHM) from hospital discharge to four months' corrected age. Those not fed HM received a preterm formula (PF). At six years of age, BMD and BMC in all the children were established by means of a dual-energy X-ray absorptiometry (DXA) scan (Lunar Prodigy) and adjusted for sex, age, and anthropometrics. A total of 192 very preterm-born children (59 fed UHM, 67 FHM and 66 PF) had a DXA scan performed at median 6 (5.8-8.3) years of age. No significant difference was found comparing UHM and FHM according to height, weight, BA, BMC, and BMD at six years of age. However, a multiple regression analysis showed significantly improved BMD in breastfed children compared to PF-fed children.

Conclusions: Fortified compared to non-fortified human milk post-discharge did not have an impact on BMD at 6 years of age in very preterm-born infants. Breastfed children demonstrated higher BMD than formula-fed children.

What is known: • Adequate nutritional intake is important to improve growth and to reduce the risk of severe bone disease in very preterm born infants. • Bone mineralization is attained later in preterm born infants compared to term born infants.

What is new: • Feeding human milk with fortification compared to non-fortified human milk did not improve bone mineral density in children born very preterm in this follow-up study at six years of age. • Feeding human milk compared to formula was associated with increased BMD at six years of age among very preterm born infants.

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引用次数: 0
Zero vegetable or fruit consumption and its associated factors among children aged 6 to 23 months in Kenya: a multilevel analysis of a large population-based survey.
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-01-30 DOI: 10.1007/s00431-025-05995-z
Enyew Getaneh Mekonen, Mohammed Seid Ali, Belayneh Shetie Workneh

Poor consumption of fruits and vegetables is associated with an increased risk of non-communicable diseases, micronutrient deficiency, and undernutrition. Fruit and vegetable consumption is generally low worldwide, particularly in rural regions of many low- and middle-income countries. This study aimed to determine the prevalence and determinants of zero vegetable or fruit consumption among children aged 6 to 23 months in Kenya using the most recent Kenya Demographic and Health Survey. A cross-sectional study was employed using data from the most recent nationally representative KDHS 2022. A weighted sample of 2,965 children aged between 6 to 23 months who were living with their mother was included in the study. Data extracted from the KDHS 2022 data sets were cleaned, recoded, and analyzed using STATA/SE version 14.0 statistical software. Multilevel logistic regression was used to determine the factors associated with the dependent variable. Finally, variables with a p-value less than 0.05 were declared statistically significant. The proportion of zero vegetable or fruit consumption among children aged 6 to 23 months in Kenya was 45.50% (95% CI: 43.71%-47.30%). Factors like maternal education [AOR = 0.59; 95% CI (0.37, 0.93)], maternal occupation [AOR = 0.60; 95% CI (0.47, 0.76)], media exposure [AOR = 0.59; 95% CI (0.43, 0.80)], wealth index [AOR = 0.68; 95% CI (0.49, 0.95)], place of delivery [AOR = 0.69; 95% CI (0.51, 0.94)], number of ANC visits [AOR = 1.30; 95% CI (1.05, 1.62)], child's age [AOR = 0.30; 95% CI (0.21, 0.41)], community media exposure [AOR = 0.30; 95% CI (0.21, 0.41)], community literacy [AOR = 0.29; 95% CI (0.20, 0.43)], and community poverty [AOR = 1.46; 95% CI (1.04, 2.05)] were significantly associated with zero vegetable or fruit consumption.

Conclusion: The proportion of zero vegetable or fruit consumption among children aged 6 to 23 months in Kenya was high. Zero vegetable or fruit consumption was significantly associated with maternal education, maternal occupation, media exposure, wealth index, place of delivery, number of ANC visits, child's age, community media exposure, community literacy, and community poverty. Giving attention to jobless, media-non-exposed mothers, poor wealth status, who gave birth at home, who had no formal education, attended < 4 ANC visits, and children aged 6 to 8 months is recommended.

What is known: • Dietary recommendations for fruit and vegetable consumption were not met by many children in low and middle-income countries.

What is new: • The proportion of zero vegetable or fruit consumption among children aged 6 to 23 months in Kenya was high.

{"title":"Zero vegetable or fruit consumption and its associated factors among children aged 6 to 23 months in Kenya: a multilevel analysis of a large population-based survey.","authors":"Enyew Getaneh Mekonen, Mohammed Seid Ali, Belayneh Shetie Workneh","doi":"10.1007/s00431-025-05995-z","DOIUrl":"10.1007/s00431-025-05995-z","url":null,"abstract":"<p><p>Poor consumption of fruits and vegetables is associated with an increased risk of non-communicable diseases, micronutrient deficiency, and undernutrition. Fruit and vegetable consumption is generally low worldwide, particularly in rural regions of many low- and middle-income countries. This study aimed to determine the prevalence and determinants of zero vegetable or fruit consumption among children aged 6 to 23 months in Kenya using the most recent Kenya Demographic and Health Survey. A cross-sectional study was employed using data from the most recent nationally representative KDHS 2022. A weighted sample of 2,965 children aged between 6 to 23 months who were living with their mother was included in the study. Data extracted from the KDHS 2022 data sets were cleaned, recoded, and analyzed using STATA/SE version 14.0 statistical software. Multilevel logistic regression was used to determine the factors associated with the dependent variable. Finally, variables with a p-value less than 0.05 were declared statistically significant. The proportion of zero vegetable or fruit consumption among children aged 6 to 23 months in Kenya was 45.50% (95% CI: 43.71%-47.30%). Factors like maternal education [AOR = 0.59; 95% CI (0.37, 0.93)], maternal occupation [AOR = 0.60; 95% CI (0.47, 0.76)], media exposure [AOR = 0.59; 95% CI (0.43, 0.80)], wealth index [AOR = 0.68; 95% CI (0.49, 0.95)], place of delivery [AOR = 0.69; 95% CI (0.51, 0.94)], number of ANC visits [AOR = 1.30; 95% CI (1.05, 1.62)], child's age [AOR = 0.30; 95% CI (0.21, 0.41)], community media exposure [AOR = 0.30; 95% CI (0.21, 0.41)], community literacy [AOR = 0.29; 95% CI (0.20, 0.43)], and community poverty [AOR = 1.46; 95% CI (1.04, 2.05)] were significantly associated with zero vegetable or fruit consumption.</p><p><strong>Conclusion: </strong>The proportion of zero vegetable or fruit consumption among children aged 6 to 23 months in Kenya was high. Zero vegetable or fruit consumption was significantly associated with maternal education, maternal occupation, media exposure, wealth index, place of delivery, number of ANC visits, child's age, community media exposure, community literacy, and community poverty. Giving attention to jobless, media-non-exposed mothers, poor wealth status, who gave birth at home, who had no formal education, attended < 4 ANC visits, and children aged 6 to 8 months is recommended.</p><p><strong>What is known: </strong>• Dietary recommendations for fruit and vegetable consumption were not met by many children in low and middle-income countries.</p><p><strong>What is new: </strong>• The proportion of zero vegetable or fruit consumption among children aged 6 to 23 months in Kenya was high.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 2","pages":"164"},"PeriodicalIF":3.0,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11782355/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143064575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Respiratory physiological changes post initiation of neurally adjusted ventilatory assist in preterm infants with evolving or established bronchopulmonary dysplasia.
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-01-29 DOI: 10.1007/s00431-025-05997-x
Basma Mohamed, Anay Kulkarni, Donovan Duffy, Anne Greenough, Sandeep Shetty

To assess respiratory changes after neurally adjusted ventilatory assist (NAVA) initiation in preterm infants with evolving or established bronchopulmonary dysplasia (BPD). Premature infants born less than 32 weeks gestation with evolving or established BPD initiated on invasive or non-invasive (NIV) NAVA were included. Respiratory data: PCO and SpO₂/FiO₂ (S/F) ratio before and at 4, 24, 48 h post-NAVA initiation were collected. Eighty-eight infants, median GA 25.1 (range 22.7-30.3) weeks, with 191 NAVA episodes were included. Infants born < 32 weeks with evolving and established BPD showed improvements in PCO and S/F ratio 48 h post-NAVA compared to prior: 7.6 (4.5-11.8) versus 8.1 (4.7-13.1) kPa; p < 0.001 and 285 (118-471) versus 276 (103-471); p = 0.013, respectively. Improvements were observed in invasive NAVA: 7.6 (4.5-11.8) versus 8.5 (4.7-12.4) kPa; p = 0.001, 290 (148-471) versus 271 (103-467); p = 0.002, and NIV-NAVA: 7.5 (4.6-11.7) versus 7.9 (5.2-13.1) kPa; p = 0.001, 283 (128-471) versus 294 (114-471); p = 0.002. Severe BPD infants had reductions in PCO 48 h post-initiation: 7.2 (5.6-9.7) versus 8.0 (5.4-11.7) kPa; p = 0.002, with lower FiO₂ requirements 0.37 (0.21-0.65) versus 0.43 (0.21-0.8); p = 0.011, and improved S/F ratios 263 (146-471) versus 219 (114-457); p = 0.006. On subgroup analysis, similar improvements were noted in; PCO2 levels in invasive NAVA (p = 0.011) and NIV-NAVA (p = 0.002), S/F ratios in invasive NAVA (p = 0.046) and NIV-NAVA (p = 0.002) and FiO₂ in invasive NAVA (p = 0.034) and NIV-NAVA (p = 0.053).Conclusion: NAVA improves CO clearance and oxygenation in infants with evolving or established and severe BPD at 48 h post-initiation. In severe BPD, NAVA also reduced oxygen requirements What is Known: • NAVA has the potential to improve CO2 clearance and oxygenation by optimising alveolar ventilation, adapting to the infant's breathing patterns, and enhancing gas exchange. What is New: • The beneficial effects of NAVA are sustained in infants with evolving or established bronchopulmonary dysplasia (BPD), improving carbon dioxide clearance and oxygenation at 48 hours after initiation.

{"title":"Respiratory physiological changes post initiation of neurally adjusted ventilatory assist in preterm infants with evolving or established bronchopulmonary dysplasia.","authors":"Basma Mohamed, Anay Kulkarni, Donovan Duffy, Anne Greenough, Sandeep Shetty","doi":"10.1007/s00431-025-05997-x","DOIUrl":"10.1007/s00431-025-05997-x","url":null,"abstract":"<p><p>To assess respiratory changes after neurally adjusted ventilatory assist (NAVA) initiation in preterm infants with evolving or established bronchopulmonary dysplasia (BPD). Premature infants born less than 32 weeks gestation with evolving or established BPD initiated on invasive or non-invasive (NIV) NAVA were included. Respiratory data: PCO<sub>₂</sub> and SpO₂/FiO₂ (S/F) ratio before and at 4, 24, 48 h post-NAVA initiation were collected. Eighty-eight infants, median GA 25.1 (range 22.7-30.3) weeks, with 191 NAVA episodes were included. Infants born < 32 weeks with evolving and established BPD showed improvements in PCO<sub>₂</sub> and S/F ratio 48 h post-NAVA compared to prior: 7.6 (4.5-11.8) versus 8.1 (4.7-13.1) kPa; p < 0.001 and 285 (118-471) versus 276 (103-471); p = 0.013, respectively. Improvements were observed in invasive NAVA: 7.6 (4.5-11.8) versus 8.5 (4.7-12.4) kPa; p = 0.001, 290 (148-471) versus 271 (103-467); p = 0.002, and NIV-NAVA: 7.5 (4.6-11.7) versus 7.9 (5.2-13.1) kPa; p = 0.001, 283 (128-471) versus 294 (114-471); p = 0.002. Severe BPD infants had reductions in PCO<sub>₂</sub> 48 h post-initiation: 7.2 (5.6-9.7) versus 8.0 (5.4-11.7) kPa; p = 0.002, with lower FiO₂ requirements 0.37 (0.21-0.65) versus 0.43 (0.21-0.8); p = 0.011, and improved S/F ratios 263 (146-471) versus 219 (114-457); p = 0.006. On subgroup analysis, similar improvements were noted in; PCO<sub>2</sub> levels in invasive NAVA (p = 0.011) and NIV-NAVA (p = 0.002), S/F ratios in invasive NAVA (p = 0.046) and NIV-NAVA (p = 0.002) and FiO₂ in invasive NAVA (p = 0.034) and NIV-NAVA (p = 0.053).Conclusion: NAVA improves CO<sub>₂</sub> clearance and oxygenation in infants with evolving or established and severe BPD at 48 h post-initiation. In severe BPD, NAVA also reduced oxygen requirements What is Known: • NAVA has the potential to improve CO<sub>2</sub> clearance and oxygenation by optimising alveolar ventilation, adapting to the infant's breathing patterns, and enhancing gas exchange. What is New: • The beneficial effects of NAVA are sustained in infants with evolving or established bronchopulmonary dysplasia (BPD), improving carbon dioxide clearance and oxygenation at 48 hours after initiation.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 2","pages":"159"},"PeriodicalIF":3.0,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11779694/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neonatal outcomes in twin pregnancies in Finland from 2008 to 2023.
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-01-28 DOI: 10.1007/s00431-025-05996-y
Ilari Kuitunen

Twin pregnancies are associated with higher risks of adverse maternal and neonatal outcomes compared to singleton pregnancies. This retrospective nationwide cohort study analyzed trends in twin pregnancy outcomes in Finland from 2008 to 2023 using data from the Finnish Medical Birth Register. Outcomes assessed included perinatal mortality, stillbirths, neonatal mortality, neonatal intensive care unit (NICU) admissions, and hospitalization rates at one week of age. A total of 23,588 twin births were included, with an overall stillbirth rate of 9.0 per 1000 and a perinatal mortality rate of 16.0 per 1000. Neonatal mortality rates declined significantly, with term twins showing a rate of 0.9 per 1000 and preterm twins 4.6 per 1000 in the latest years of 2022-2023. NICU admission rates remained stable for preterm twins but showed an increasing trend for term twins. The rate of hospitalized neonates at the age of seven days decreased over time.

Conclusion: These trends align with improved antenatal care and Finland's reputation for low neonatal mortality. However, increasing maternal age and obesity rates may contribute to rising NICU admissions in term twins. The study highlights the need for continuous monitoring of neonatal outcomes to ensure high standards of care in the context of declining fertility and delivery rates in Finland.

What is known: • Twin pregnancies are associated with higher risks of adverse maternal and neonatal outcomes compared to singleton pregnancies. • Finland has one of the lowest neonatal mortality rates globally.

What is new: • Neonatal mortality rates declined significantly both in term and preterm twins from 2008 to 2023. • NICU admission rates remained stable for preterm twins but showed an increasing trend for term twins.

{"title":"Neonatal outcomes in twin pregnancies in Finland from 2008 to 2023.","authors":"Ilari Kuitunen","doi":"10.1007/s00431-025-05996-y","DOIUrl":"10.1007/s00431-025-05996-y","url":null,"abstract":"<p><p>Twin pregnancies are associated with higher risks of adverse maternal and neonatal outcomes compared to singleton pregnancies. This retrospective nationwide cohort study analyzed trends in twin pregnancy outcomes in Finland from 2008 to 2023 using data from the Finnish Medical Birth Register. Outcomes assessed included perinatal mortality, stillbirths, neonatal mortality, neonatal intensive care unit (NICU) admissions, and hospitalization rates at one week of age. A total of 23,588 twin births were included, with an overall stillbirth rate of 9.0 per 1000 and a perinatal mortality rate of 16.0 per 1000. Neonatal mortality rates declined significantly, with term twins showing a rate of 0.9 per 1000 and preterm twins 4.6 per 1000 in the latest years of 2022-2023. NICU admission rates remained stable for preterm twins but showed an increasing trend for term twins. The rate of hospitalized neonates at the age of seven days decreased over time.</p><p><strong>Conclusion: </strong>These trends align with improved antenatal care and Finland's reputation for low neonatal mortality. However, increasing maternal age and obesity rates may contribute to rising NICU admissions in term twins. The study highlights the need for continuous monitoring of neonatal outcomes to ensure high standards of care in the context of declining fertility and delivery rates in Finland.</p><p><strong>What is known: </strong>• Twin pregnancies are associated with higher risks of adverse maternal and neonatal outcomes compared to singleton pregnancies. • Finland has one of the lowest neonatal mortality rates globally.</p><p><strong>What is new: </strong>• Neonatal mortality rates declined significantly both in term and preterm twins from 2008 to 2023. • NICU admission rates remained stable for preterm twins but showed an increasing trend for term twins.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 2","pages":"158"},"PeriodicalIF":3.0,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11775026/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pediatric eosinophilic fasciitis: similarities and differences with adult forms.
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-01-28 DOI: 10.1007/s00431-025-05981-5
Thibaut César, Diane Giovannini, Alban Deroux, Laurence Bouillet, Frédérique Nugues, Aurélia Carbasse, Isabelle Koné-Paut, Charlotte Borocco, Christine Pietrement, Brigitte Bader-Meunier, Pierre Quartier, Audrey Laurent, Teresa Giani, Normi Brück, Joan Calzada-Hernàndez, Anne Pagnier, Charlotte Kevorkian-Verguet

The purpose of this study was to identify pediatric eosinophilic fasciitis, which is an extremely rare condition, in order to describe their clinical, paraclinical, and therapeutic characteristics. We made a call for observations via societies for pediatric rheumatology in France and surrounding countries and collected clinical and paraclinical data of the cases fulfilling the diagnostic criteria. Eight patients under 18 years of age with confirmed eosinophilic fasciitis followed between April 2004 and July 2022 in France, Germany, Italy, and Spain were included. The median age of onset of symptoms was 8.7 years (range 3 to 12.6). All patients had skin and joint involvement at diagnosis. Eosinophilia was present at diagnosis in 5/8 patients and 5/7 patients presented hypergammaglobulinemia. All the patients had an MRI, and in 6, we observed thickened fascia with a T2 hypersignal. Five patients had undergone a full-thickness biopsy showing a polymorphic lymphoplasmacytic infiltrate of the fascia in all and the presence of eosinophils in 4 of them. All the patients were treated with corticosteroids with variable regimens and all received at least an immunosuppressant. Conclusion: To our knowledge, this is the largest pediatric series of eosinophilic fasciitis. The clinical and paraclinical presentation seems similar to that of adults except for a form that appears to be distinguished with isolated joint contractures, and hypergammaglobulinemia which appears to be more frequent in children. Dermatological and pathological expertise and MRI are key elements of the diagnosis. The most consensual treatment includes physiotherapy, prolonged corticosteroid therapy, and methotrexate as first-line therapy. What is Known • Eosinophilic fasciitis is a rare condition, especially in children with approximately 60 reported pediatric cases. • Some pediatric specificities tend to emerge from some reports. What is New • Possible isolated joints contractures and more frequent hypergammaglobulinemia seem to characterize pediatric eosinophilic fasciitis in comparison with adult forms. • The most frequently used first-line therapy combines physiotherapy, corticosteroids and methrotrexate.

{"title":"Pediatric eosinophilic fasciitis: similarities and differences with adult forms.","authors":"Thibaut César, Diane Giovannini, Alban Deroux, Laurence Bouillet, Frédérique Nugues, Aurélia Carbasse, Isabelle Koné-Paut, Charlotte Borocco, Christine Pietrement, Brigitte Bader-Meunier, Pierre Quartier, Audrey Laurent, Teresa Giani, Normi Brück, Joan Calzada-Hernàndez, Anne Pagnier, Charlotte Kevorkian-Verguet","doi":"10.1007/s00431-025-05981-5","DOIUrl":"https://doi.org/10.1007/s00431-025-05981-5","url":null,"abstract":"<p><p>The purpose of this study was to identify pediatric eosinophilic fasciitis, which is an extremely rare condition, in order to describe their clinical, paraclinical, and therapeutic characteristics. We made a call for observations via societies for pediatric rheumatology in France and surrounding countries and collected clinical and paraclinical data of the cases fulfilling the diagnostic criteria. Eight patients under 18 years of age with confirmed eosinophilic fasciitis followed between April 2004 and July 2022 in France, Germany, Italy, and Spain were included. The median age of onset of symptoms was 8.7 years (range 3 to 12.6). All patients had skin and joint involvement at diagnosis. Eosinophilia was present at diagnosis in 5/8 patients and 5/7 patients presented hypergammaglobulinemia. All the patients had an MRI, and in 6, we observed thickened fascia with a T2 hypersignal. Five patients had undergone a full-thickness biopsy showing a polymorphic lymphoplasmacytic infiltrate of the fascia in all and the presence of eosinophils in 4 of them. All the patients were treated with corticosteroids with variable regimens and all received at least an immunosuppressant. Conclusion: To our knowledge, this is the largest pediatric series of eosinophilic fasciitis. The clinical and paraclinical presentation seems similar to that of adults except for a form that appears to be distinguished with isolated joint contractures, and hypergammaglobulinemia which appears to be more frequent in children. Dermatological and pathological expertise and MRI are key elements of the diagnosis. The most consensual treatment includes physiotherapy, prolonged corticosteroid therapy, and methotrexate as first-line therapy. What is Known • Eosinophilic fasciitis is a rare condition, especially in children with approximately 60 reported pediatric cases. • Some pediatric specificities tend to emerge from some reports. What is New • Possible isolated joints contractures and more frequent hypergammaglobulinemia seem to characterize pediatric eosinophilic fasciitis in comparison with adult forms. • The most frequently used first-line therapy combines physiotherapy, corticosteroids and methrotrexate.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 2","pages":"156"},"PeriodicalIF":3.0,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Screening for sickle cell disease by point-of-care tests in Italy: pilot study on 1000 at risk children.
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-01-28 DOI: 10.1007/s00431-025-05988-y
Maddalena Casale, Saverio Scianguetta, Teresa Palma, Laura Pinfildi, Giampiero Vallefuoco, Maria Chiara Capellupo, Domenico Roberti, Silverio Perrotta

Sickle cell disease (SCD) is a global health problem causing premature deaths and preventable severe chronic complications. A priority goal to improve outcomes both in the short and long term is the screening for early diagnosis and access to specialized care. In Italy, as in other countries, no systematic national screening program is available. A regional pilot project was developed with the aim to screen 1000 children at risk of SCD in Italy. Primary care paediatricians received point-of-care tests (POCTs) to detect abnormal haemoglobin (Hb) to be offered to children regularly followed at their own clinics. Children positive to the POCT were referred to the regional paediatric specialized centre for diagnosis confirmation and follow up. Among 1000 at risk children screened, 85 (8,5%) tested positive for an abnormal Hb. HbS trait was reported in 69 (7%) children, HbC trait in 13 (1,3%) and SCD was diagnosed in 3 (0,3% overall; 0,56% in African background) children. African family background was the most affected by sickle mutations and all children with SCD had African ancestry. Only 56/259 (22%) primary care paediatricians invited but 20/21 (95%) reception centres adhered to the pilot screening project.

Conclusions: A screening program for SCD performed by the primary care paediatricians is feasible and relatively easy to organize. SCD affects mainly children with African family background and the scarce adherence of primary care paediatricians, in contrast to the high adhesion of charitable institutions, outlines the need for a mandatory screening for SCD, and improved awareness among health care providers.

What is known: • Sickle Cell Disease (SCD) is a serious global health problem that requires management in specialized centres from the first months of life. • In the absence of neonatal screening for SCD, primary health care settings represent a feasible and costeffective approach for early disease detection.

What is new: • In Italy, screening for SCD performed by primary care pediatricians detected a hemoglobin variant in 8.5% children, with a disease prevalence of 0.3% in the whole population and 0.56% in children with African family background. • The poor adherence of paediatricians to the voluntary screening for SCD highlights the need for legislative interventions and training activities to ensure early diagnosis and rapid access to care for all children affected by SCD.

{"title":"Screening for sickle cell disease by point-of-care tests in Italy: pilot study on 1000 at risk children.","authors":"Maddalena Casale, Saverio Scianguetta, Teresa Palma, Laura Pinfildi, Giampiero Vallefuoco, Maria Chiara Capellupo, Domenico Roberti, Silverio Perrotta","doi":"10.1007/s00431-025-05988-y","DOIUrl":"10.1007/s00431-025-05988-y","url":null,"abstract":"<p><p>Sickle cell disease (SCD) is a global health problem causing premature deaths and preventable severe chronic complications. A priority goal to improve outcomes both in the short and long term is the screening for early diagnosis and access to specialized care. In Italy, as in other countries, no systematic national screening program is available. A regional pilot project was developed with the aim to screen 1000 children at risk of SCD in Italy. Primary care paediatricians received point-of-care tests (POCTs) to detect abnormal haemoglobin (Hb) to be offered to children regularly followed at their own clinics. Children positive to the POCT were referred to the regional paediatric specialized centre for diagnosis confirmation and follow up. Among 1000 at risk children screened, 85 (8,5%) tested positive for an abnormal Hb. HbS trait was reported in 69 (7%) children, HbC trait in 13 (1,3%) and SCD was diagnosed in 3 (0,3% overall; 0,56% in African background) children. African family background was the most affected by sickle mutations and all children with SCD had African ancestry. Only 56/259 (22%) primary care paediatricians invited but 20/21 (95%) reception centres adhered to the pilot screening project.</p><p><strong>Conclusions: </strong>A screening program for SCD performed by the primary care paediatricians is feasible and relatively easy to organize. SCD affects mainly children with African family background and the scarce adherence of primary care paediatricians, in contrast to the high adhesion of charitable institutions, outlines the need for a mandatory screening for SCD, and improved awareness among health care providers.</p><p><strong>What is known: </strong>• Sickle Cell Disease (SCD) is a serious global health problem that requires management in specialized centres from the first months of life. • In the absence of neonatal screening for SCD, primary health care settings represent a feasible and costeffective approach for early disease detection.</p><p><strong>What is new: </strong>• In Italy, screening for SCD performed by primary care pediatricians detected a hemoglobin variant in 8.5% children, with a disease prevalence of 0.3% in the whole population and 0.56% in children with African family background. • The poor adherence of paediatricians to the voluntary screening for SCD highlights the need for legislative interventions and training activities to ensure early diagnosis and rapid access to care for all children affected by SCD.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 2","pages":"157"},"PeriodicalIF":3.0,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11774984/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effect of azithromycin combined with fluticasone propionate aerosol inhalation on immune function in children with chronic cough caused by Mycoplasma pneumoniae infection.
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-01-27 DOI: 10.1007/s00431-024-05961-1
Xin Yang, Lihua Gao

This research aimed to describe the effect of azithromycin combined with fluticasone propionate aerosol inhalation on immune function in children with chronic cough caused by Mycoplasma pneumoniae (MP) infection. This study was a retrospective analysis in which 110 children with chronic cough caused by MP infection were divided into two groups based on different treatment methods: 58 cases in the control group treated with azithromycin dry suspension and 52 cases in the intervention group treated with azithromycin dry suspension and fluticasone propionate inhalation aerosol. Lung function, inflammatory factors, immune indicators, laboratory-related indicators, adverse reactions, and therapeutic effects were compared between the two groups. Compared with the pre-treatment period, levels of FEV1, FVC, and PEF increased post-treatment in both groups, with higher levels observed in the intervention group (all P < 0.05). IL-17, IL-6, and IL-10 levels decreased post-treatment in both groups, with the intervention group showing lower levels (all P < 0.05). The levels of IgG, IgA, IgM, CRP, ESR, and PCT decreased in both groups, with the intervention group showing lower levels (all P < 0.05). Higher treatment effectiveness rates were observed in the intervention group compared to the control group (P < 0.05). The incidence of adverse reactions did not differ significantly between the two groups (P > 0.05).

Conclusion: Azithromycin dry suspension combined with fluticasone propionate aerosol inhalation in children with chronic cough due to MP infection reduces inflammatory factors, improves immune function, and enhances treatment efficacy.

What is known: • The addition of oral azithromycin has demonstrated significant efficacy in treating cough caused by chronic respiratory disease, and inhaling fluticasone propionate has a more significant systemic impact than other corticosteroids.

What is new: • Azithromycin dry suspension combined with fluticasone propionate aerosol inhalation in children with chronic cough due to MP infection reduces inflammatory factors, improves immune function, and enhances treatment efficacy.

{"title":"Effect of azithromycin combined with fluticasone propionate aerosol inhalation on immune function in children with chronic cough caused by Mycoplasma pneumoniae infection.","authors":"Xin Yang, Lihua Gao","doi":"10.1007/s00431-024-05961-1","DOIUrl":"https://doi.org/10.1007/s00431-024-05961-1","url":null,"abstract":"<p><p>This research aimed to describe the effect of azithromycin combined with fluticasone propionate aerosol inhalation on immune function in children with chronic cough caused by Mycoplasma pneumoniae (MP) infection. This study was a retrospective analysis in which 110 children with chronic cough caused by MP infection were divided into two groups based on different treatment methods: 58 cases in the control group treated with azithromycin dry suspension and 52 cases in the intervention group treated with azithromycin dry suspension and fluticasone propionate inhalation aerosol. Lung function, inflammatory factors, immune indicators, laboratory-related indicators, adverse reactions, and therapeutic effects were compared between the two groups. Compared with the pre-treatment period, levels of FEV1, FVC, and PEF increased post-treatment in both groups, with higher levels observed in the intervention group (all P < 0.05). IL-17, IL-6, and IL-10 levels decreased post-treatment in both groups, with the intervention group showing lower levels (all P < 0.05). The levels of IgG, IgA, IgM, CRP, ESR, and PCT decreased in both groups, with the intervention group showing lower levels (all P < 0.05). Higher treatment effectiveness rates were observed in the intervention group compared to the control group (P < 0.05). The incidence of adverse reactions did not differ significantly between the two groups (P > 0.05).</p><p><strong>Conclusion: </strong>Azithromycin dry suspension combined with fluticasone propionate aerosol inhalation in children with chronic cough due to MP infection reduces inflammatory factors, improves immune function, and enhances treatment efficacy.</p><p><strong>What is known: </strong>• The addition of oral azithromycin has demonstrated significant efficacy in treating cough caused by chronic respiratory disease, and inhaling fluticasone propionate has a more significant systemic impact than other corticosteroids.</p><p><strong>What is new: </strong>• Azithromycin dry suspension combined with fluticasone propionate aerosol inhalation in children with chronic cough due to MP infection reduces inflammatory factors, improves immune function, and enhances treatment efficacy.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 2","pages":"155"},"PeriodicalIF":3.0,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Access to child-appropriate medicines: an exploratory survey of the use of paediatric use marketing authorisation products in the UK.
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-01-25 DOI: 10.1007/s00431-025-05987-z
Mandy Wan, Amin Houshian, Stephen Tomlin, Asia N Rashed

The Paediatric Use Marketing Authorisation (PUMA) was introduced in the European Union to incentivise the development of off-patent medicines in children. However, there is limited data on the accessibility of PUMA products at the healthcare provider level. This study aimed to identify factors affecting real-world accessibility to PUMA products in the United Kingdom (UK). Inductive thematic analyses of the archives of the Neonatal and Paediatric Pharmacy Group (NPPG) online forum were conducted. A web-based survey was also distributed to NPPG members in September 2022 regarding the availability of PUMA products in their organisations. Thematic analysis generated five themes: authorisation, availability, affordability, appropriateness and acceptability. Restricted scope of the product's marketing authorisation, market access variation, higher cost of PUMA products, product appropriateness and patient acceptability were reasons for continued off-label use and use of unlicensed products in clinical practice. Conclusion: Despite targeted legislative efforts to bring off-label uses in children into authorised use, this study provides evidence that authorisation alone does not equate to market availability, which in turn does not guarantee patient access. The study findings also suggest that cost pressure drives local procurement decisions and overshadows the long-standing problems associated with off-label use and manipulation of medicines in children. What is already known about this subject • The Paediatric Use Marketing Authorisation (PUMA) was introduced in the European Union (applied to the UK at the time) to incentivise the development of off-patient medicines exclusively for use in the paediatric population. • It is widely acknowledged that the PUMA concept has not achieved its intended goal, as evidenced by the few products authorised through this route. What this study adds • This study shows inequalities in children's access to PUMA products in the UK. • Determinants impeding patient access to child-appropriate paediatric medicines can be categorised into five dimensions: authorisation, availability, affordability, appropriateness, and acceptability.

{"title":"Access to child-appropriate medicines: an exploratory survey of the use of paediatric use marketing authorisation products in the UK.","authors":"Mandy Wan, Amin Houshian, Stephen Tomlin, Asia N Rashed","doi":"10.1007/s00431-025-05987-z","DOIUrl":"10.1007/s00431-025-05987-z","url":null,"abstract":"<p><p>The Paediatric Use Marketing Authorisation (PUMA) was introduced in the European Union to incentivise the development of off-patent medicines in children. However, there is limited data on the accessibility of PUMA products at the healthcare provider level. This study aimed to identify factors affecting real-world accessibility to PUMA products in the United Kingdom (UK). Inductive thematic analyses of the archives of the Neonatal and Paediatric Pharmacy Group (NPPG) online forum were conducted. A web-based survey was also distributed to NPPG members in September 2022 regarding the availability of PUMA products in their organisations. Thematic analysis generated five themes: authorisation, availability, affordability, appropriateness and acceptability. Restricted scope of the product's marketing authorisation, market access variation, higher cost of PUMA products, product appropriateness and patient acceptability were reasons for continued off-label use and use of unlicensed products in clinical practice. Conclusion: Despite targeted legislative efforts to bring off-label uses in children into authorised use, this study provides evidence that authorisation alone does not equate to market availability, which in turn does not guarantee patient access. The study findings also suggest that cost pressure drives local procurement decisions and overshadows the long-standing problems associated with off-label use and manipulation of medicines in children. What is already known about this subject • The Paediatric Use Marketing Authorisation (PUMA) was introduced in the European Union (applied to the UK at the time) to incentivise the development of off-patient medicines exclusively for use in the paediatric population. • It is widely acknowledged that the PUMA concept has not achieved its intended goal, as evidenced by the few products authorised through this route. What this study adds • This study shows inequalities in children's access to PUMA products in the UK. • Determinants impeding patient access to child-appropriate paediatric medicines can be categorised into five dimensions: authorisation, availability, affordability, appropriateness, and acceptability.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 2","pages":"154"},"PeriodicalIF":3.0,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11761528/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143037598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Under-five mortality and social determinants in africa: a systematic review.
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-01-24 DOI: 10.1007/s00431-024-05966-w
Israel C Avelino, Joaquim Van-Dúnem, Luís Varandas

Purpose: Under-five mortality is a key public health indicator, highly responsive to preventive interventions. While global efforts have made strides in reducing mortality rates in this age group, significant disparities persist, particularly in Sub-Saharan Africa. This study aimed to systematically review the factors influencing under-five mortality in Africa, focusing on sociodemographic factors and health-related determinants.

Methods: A systematic review was conducted adhering to PRISMA guidelines. Studies were identified from a range of well-established indexed academic databases. Keywords and Boolean operators facilitated relevant study retrieval. Only articles published in English, Portuguese, or Spanish between January 2013 and November 2024, in peer-reviewed journals, were included. Methodological quality assessment utilised the Joanna Briggs Institute tool.

Results: Of the 602 studies identified, 39 met the inclusion criteria. Key determinants of under-five mortality included socioeconomic factors such as poverty and maternal education, along with maternal age extremes, multiparity, inadequate prenatal care, and low birth weight.

Conclusion: Addressing social disparities, particularly through enhanced maternal education and improved access to primary healthcare, is critical in reducing under-five mortality in Africa. The findings underscore the importance of targeted interventions that address both social and healthcare-related factors to mitigate child mortality in the region.

What is known: •Under-five mortality in Sub-Saharan Africa is primarily driven by preventable infectious diseases, such as diarrhoea, pneumonia, malaria, and HIV/AIDS, compounded by malnutrition and inadequate healthcare infrastructure. •Socio-economic factors, including poverty, maternal education, and limited access to quality healthcare, are consistently identified as key determinants of high child mortality rates in the region.

What is new: •This review applies the Mosley and Chen framework to categorise the determinants of under-five mortality into distal, intermediate, and proximal factors, providing a structured understanding of their interconnections. •The findings underscore how socio-economic conditions, maternal education, and healthcare access interact to influence child survival outcomes in Sub-Saharan Africa, offering valuable insights for region-specific public health interventions.

{"title":"Under-five mortality and social determinants in africa: a systematic review.","authors":"Israel C Avelino, Joaquim Van-Dúnem, Luís Varandas","doi":"10.1007/s00431-024-05966-w","DOIUrl":"10.1007/s00431-024-05966-w","url":null,"abstract":"<p><strong>Purpose: </strong>Under-five mortality is a key public health indicator, highly responsive to preventive interventions. While global efforts have made strides in reducing mortality rates in this age group, significant disparities persist, particularly in Sub-Saharan Africa. This study aimed to systematically review the factors influencing under-five mortality in Africa, focusing on sociodemographic factors and health-related determinants.</p><p><strong>Methods: </strong>A systematic review was conducted adhering to PRISMA guidelines. Studies were identified from a range of well-established indexed academic databases. Keywords and Boolean operators facilitated relevant study retrieval. Only articles published in English, Portuguese, or Spanish between January 2013 and November 2024, in peer-reviewed journals, were included. Methodological quality assessment utilised the Joanna Briggs Institute tool.</p><p><strong>Results: </strong>Of the 602 studies identified, 39 met the inclusion criteria. Key determinants of under-five mortality included socioeconomic factors such as poverty and maternal education, along with maternal age extremes, multiparity, inadequate prenatal care, and low birth weight.</p><p><strong>Conclusion: </strong>Addressing social disparities, particularly through enhanced maternal education and improved access to primary healthcare, is critical in reducing under-five mortality in Africa. The findings underscore the importance of targeted interventions that address both social and healthcare-related factors to mitigate child mortality in the region.</p><p><strong>What is known: </strong>•Under-five mortality in Sub-Saharan Africa is primarily driven by preventable infectious diseases, such as diarrhoea, pneumonia, malaria, and HIV/AIDS, compounded by malnutrition and inadequate healthcare infrastructure. •Socio-economic factors, including poverty, maternal education, and limited access to quality healthcare, are consistently identified as key determinants of high child mortality rates in the region.</p><p><strong>What is new: </strong>•This review applies the Mosley and Chen framework to categorise the determinants of under-five mortality into distal, intermediate, and proximal factors, providing a structured understanding of their interconnections. •The findings underscore how socio-economic conditions, maternal education, and healthcare access interact to influence child survival outcomes in Sub-Saharan Africa, offering valuable insights for region-specific public health interventions.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 2","pages":"150"},"PeriodicalIF":3.0,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11759474/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143028199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical, laboratory, and molecular characteristics of patients with spondyloenchondrodysplasia: a case series study.
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2025-01-24 DOI: 10.1007/s00431-025-05982-4
Esra Pekpak Şahinoğlu, Ayse Ceyda Oren, Bahtiyar Şahinoğlu, Özlem Keskin, Çağrı Damar, Sinan Akbayram

Spondyloenchondrodysplasia (SPENCD) is a rare genetic disorder characterized with skeletal dysplasia, immune dysregulation, and neurological impairment. Patients diagnosed with SPENCD at a single pediatric hematology center were included in the study. The patients' clinical characteristics, symptoms at presentation, imaging and laboratory results, and genetic analysis results were collected retrospectively from their files. This study evaluated nine patients diagnosed with SPENCD, eight of whom had autoimmune manifestations at presentation. Common findings included autoimmune hemolytic anemia, hypothyroidism, and elevated transaminase levels. All patients exhibited short stature and skeletal abnormalities. Neurological symptoms were present in six patients, with intracranial calcifications detected in five. Recurrent bacterial and viral infections, including respiratory tract infections, were prevalent. The NM_001611.5 (ACP5): c.772_790del p.(Ser258TrpfsTer39) frameshift variant was identified in all patients. Two patients died during follow-up.

Conclusion: The study highlights the clinical characteristics and challenges associated with SPENCD. The findings underscore the need for comprehensive management strategies to address the multifaceted complications associated with SPENCD.

What is known: • Spondyloenchondrodysplasia (SPENCD) is classified as a type-1 interferonopathy resulting from homozygous mutations in the ACP5 gene, which leads to a deficiency in tartrate-resistant acid phosphatase. • The clinical features associated with this condition encompass skeletal dysplasia, spastic paraparesis, short stature, thrombocytopenia, hemolytic anemia, and systemic lupus erythematosus like autoimmune manifestations. Additionally, patients may experience intracranial calcifications and recurrent infections.

What is new: • SPENCD exhibits similarities with other type I interferonopathies, including increased levels of type I interferon and specific neurological symptoms; however, it also displays distinct characteristics such as intellectual disability and behaviors associated with autism spectrum disorder. • Despite the rare occurence of the condition and the small number of patients reported here the findings underscore the complexity of managing this condition, particularly in the context of consanguinity and the associated risks of severe complications and mortality.

{"title":"Clinical, laboratory, and molecular characteristics of patients with spondyloenchondrodysplasia: a case series study.","authors":"Esra Pekpak Şahinoğlu, Ayse Ceyda Oren, Bahtiyar Şahinoğlu, Özlem Keskin, Çağrı Damar, Sinan Akbayram","doi":"10.1007/s00431-025-05982-4","DOIUrl":"https://doi.org/10.1007/s00431-025-05982-4","url":null,"abstract":"<p><p>Spondyloenchondrodysplasia (SPENCD) is a rare genetic disorder characterized with skeletal dysplasia, immune dysregulation, and neurological impairment. Patients diagnosed with SPENCD at a single pediatric hematology center were included in the study. The patients' clinical characteristics, symptoms at presentation, imaging and laboratory results, and genetic analysis results were collected retrospectively from their files. This study evaluated nine patients diagnosed with SPENCD, eight of whom had autoimmune manifestations at presentation. Common findings included autoimmune hemolytic anemia, hypothyroidism, and elevated transaminase levels. All patients exhibited short stature and skeletal abnormalities. Neurological symptoms were present in six patients, with intracranial calcifications detected in five. Recurrent bacterial and viral infections, including respiratory tract infections, were prevalent. The NM_001611.5 (ACP5): c.772_790del p.(Ser258TrpfsTer39) frameshift variant was identified in all patients. Two patients died during follow-up.</p><p><strong>Conclusion: </strong>The study highlights the clinical characteristics and challenges associated with SPENCD. The findings underscore the need for comprehensive management strategies to address the multifaceted complications associated with SPENCD.</p><p><strong>What is known: </strong>• Spondyloenchondrodysplasia (SPENCD) is classified as a type-1 interferonopathy resulting from homozygous mutations in the ACP5 gene, which leads to a deficiency in tartrate-resistant acid phosphatase. • The clinical features associated with this condition encompass skeletal dysplasia, spastic paraparesis, short stature, thrombocytopenia, hemolytic anemia, and systemic lupus erythematosus like autoimmune manifestations. Additionally, patients may experience intracranial calcifications and recurrent infections.</p><p><strong>What is new: </strong>• SPENCD exhibits similarities with other type I interferonopathies, including increased levels of type I interferon and specific neurological symptoms; however, it also displays distinct characteristics such as intellectual disability and behaviors associated with autism spectrum disorder. • Despite the rare occurence of the condition and the small number of patients reported here the findings underscore the complexity of managing this condition, particularly in the context of consanguinity and the associated risks of severe complications and mortality.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 2","pages":"152"},"PeriodicalIF":3.0,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
European Journal of Pediatrics
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