Congenital heart disease(CHD)is the most common congenital abnormality in China with a prevalence varying from 7 to 22.9 per 1000 live births.This has caused serious disease and economic burdens at both family and soc...Congenital heart disease(CHD)is the most common congenital abnormality in China with a prevalence varying from 7 to 22.9 per 1000 live births.This has caused serious disease and economic burdens at both family and societal levels[1,2].The overall prevalence of CHD was 8.44 per 1,000 live births[2],and the number of newly diagnosed patients is expected to reach a staggering 150,000 to 200,000 per year.展开更多
BACKGROUND Congenital hallux varus(CHV)is a rare form of hallux varus deformity,characterized by medial deviation of the first toe at the metatarsophalangeal joint.It may be primary or secondary and presents clinicall...BACKGROUND Congenital hallux varus(CHV)is a rare form of hallux varus deformity,characterized by medial deviation of the first toe at the metatarsophalangeal joint.It may be primary or secondary and presents clinically with pain and asymmetry with footwear.CASE SUMMARY We documented a case of a 6-year-old girl with bilateral CHV,accompanied by adduction of the toes in the left foot.Clinical diagnosis was made by physical examination and X-ray imaging based on Bleck’s classification.Conservative treatment did not show any noticeable improvement,so the child underwent corrective surgeries on both feet.CONCLUSION The patient’s family history is positive,which requires us to take into account the importance of checking for a family history with any complaint of CHV,and both feet must be evaluated to confirm whether the deformity is unilateral or bilateral.展开更多
Women with adult congenital heart disease(CHD)face unique challenges during pregnancy,as gestational cardiovascular(CV)and hemodynamic changes can exacerbate underlying cardiac conditions.While these adaptations are w...Women with adult congenital heart disease(CHD)face unique challenges during pregnancy,as gestational cardiovascular(CV)and hemodynamic changes can exacerbate underlying cardiac conditions.While these adaptations are well tole-rated in women with structurally and functionally normal hearts,they pose sig-nificant risks for those with adult CHD(ACHD),whether repaired,palliated,or with residual defects.Maternal CHD is associated with an increased risk of ad-verse CV events,including stroke,heart failure,arrhythmias,and thromboem-bolic complications during pregnancy and the peripartum period.Effective mana-gement requires a multidisciplinary team,including cardiologists,perinatologists,anesthesiologists,and other skilled care providers.Risk stratification tools such as the modified World Health Organization classification,CARPREG II,and ZA-HARA scores are useful for predicting maternal and fetal outcomes and guiding clinical decision-making.Preconception counseling plays a critical role in asse-ssing individual risks,optimizing cardiac function,and educating patients about potential complications.Future research should prioritize innovative therapies,including targeted pharmacological agents and minimally invasive interventions,alongside improved screening methods to identify high-risk patients before symp-tomatic disease manifests.This review synthesizes current literature on managing pregnant women with ACHD,highlights gaps in clinical practice,and explores future directions to enhance care.Addressing these challenges is essential to improving maternal and fetal outcomes and ensuring comprehensive,patient-centered care throughout the reproductive journey.展开更多
BACKGROUND Congenital short bowel syndrome(CSBS)is a rare disorder characterized by a congenital shortage in the length of the small intestines,resulting in compromised intestinal functionality,frequently accompanied ...BACKGROUND Congenital short bowel syndrome(CSBS)is a rare disorder characterized by a congenital shortage in the length of the small intestines,resulting in compromised intestinal functionality,frequently accompanied by congenital intestinal malrotation.This study summarizes the experience of enteral and parenteral nutrition(PN)schemes for two cases of CSBS accompanied by intestinal malrotation to provide a reference for this condition.CASE SUMMARY Case 1 underwent surgical intervention 23 days after birth,but experienced postoperative intolerance to oral feeding.Consequently,the patient was transitioned to nasal feeding for 6 months while concurrently receiving round-the-clock PN.Despite ongoing adjustments to the caloric intake of enteral and PN throughout the treatment,cholestatic liver injury persisted.Furthermore,this child developed malnutrition by the age of 1 year.Case 2 received surgical intervention on 2 days after birth,demonstrating favorable tolerance for enteral feeding and intermittent PN.The child exhibited satisfactory growth and development without any associated complications.CONCLUSION CSBS is rarely encountered in clinical practice and is often accompanied by congenital intestinal malrotation.It can be improved with early diagnosis and active surgical intervention.Thus,we recommend early initiation of total PN,which is a highly effective measure in promoting early growth and development.展开更多
BACKGROUND Congenital scoliosis(CS)is a spinal deformity caused by defective segmentation and development of vertebrae during early embryogenesis.It occurs in 0.5%-1%in 1000 births and may rarely occur with congenital...BACKGROUND Congenital scoliosis(CS)is a spinal deformity caused by defective segmentation and development of vertebrae during early embryogenesis.It occurs in 0.5%-1%in 1000 births and may rarely occur with congenital defects affecting the heart or genitourinary system.Truncus arteriosus(TA)is a life-threatening cardiac defect in which a single arterial trunk supplies both systemic and pulmonary circulation,leading to complications such as pulmonary hypertension,heart failure,and severe hypoxia.Although rare individually,the co-occurrence of both conditions poses unique diagnostic and therapeutic challenges,with limited documentation in medical literature.CASE SUMMARY We present a 36-week preterm neonate with CS associated with TA type 1,pre-senting with respiratory distress,cyanosis,and altered spinal curvature.This case demonstrates the complexity of managing neonates with multiple congenital de-fects.Here,the patient was managed with oxygen supplementation,heart failure medication,nasogastric feeding,and multidisciplinary care to optimize her for surgical corrections.A coordinated,interdisciplinary approach was employed to optimize outcomes,particularly in a resource-limited setting.Immediate re-spiratory and cardiovascular stabilization and long-term orthopedic and cardiac interventions were central to improving the patient’s quality of life and survival.CONCLUSION Recognizing co-existing congenital anomalies and their embryological interre-lation is critical in holistic patient care,particularly during neonatal and infancy.展开更多
Pulmonary hypertension associated with congenital heart disease represents a significant challenge for clinicians due to its complex pathophysiology and diverse presentation.This patient population exhibits a broad sp...Pulmonary hypertension associated with congenital heart disease represents a significant challenge for clinicians due to its complex pathophysiology and diverse presentation.This patient population exhibits a broad spectrum of anatomical and hemodynamic abnormalities,with congenital heart disease-associated pulmonary arterial hypertension(PAH-CHD)comprising a significant proportion of pediatric pulmonary hypertension(PH)cases.Although progress in diagnostic methods and treatment options has been made,PH continues to be a major contributor to illness and death among affected pediatric patients,especially when diagnosis or treatment is postponed.This review aims to equip non-specialist clinicians with a better understanding of PH associated with congenital heart disease,focusing on its pathophysiology,clinical presentation,and diagnostic criteria.Key recommendations for evaluating and managing this fragile population are presented,emphasizing the importance of early recognition and multidisciplinary collaboration.As an increasing number of congenital heart disease patients reach adulthood,understanding its lifelong impacts becomes crucial for improving outcomes and creating tailored treatment approaches.展开更多
Congenital hyperinsulinism(CHI) is a rare but complex heterogeneous disorder caused by unregulated secre-tion of insulin from the β-cells of the pancreas leading to severe hypoglycaemia and neuroglycopaenia. Swift di...Congenital hyperinsulinism(CHI) is a rare but complex heterogeneous disorder caused by unregulated secre-tion of insulin from the β-cells of the pancreas leading to severe hypoglycaemia and neuroglycopaenia. Swift diagnosis and institution of appropriate management is crucial to prevent or minimise adverse neurodevel-opmental outcome in children with CHI. Histologically there are two major subtypes of CHI, diffuse and focal disease and the management approach will significantly differ depending on the type of the lesion. Patients with medically unresponsive diffuse disease require a near total pancreatectomy, which then leads on to the de-velopment of iatrogenic diabetes mellitus and pancre-atic exocrine insufficiency. However patients with focaldisease only require a limited pancreatectomy to re-move only the focal lesion thus providing complete cure to the patient. Hence the preoperative differentiation of the histological subtypes of CHI becomes paramount in the management of CHI. Fluorine-18L-3, 4-hydroxy-phenylalanine positron emission tomography(18F-DOPA-PET) is now the gold standard for pre-operative differentiation of focal from diffuse disease and locali-sation of the focal lesion. The aim of this review article is to give a clinical overview of CHI, then review the role of dopamine in β-cell physiology and finally discuss the role of 18F-DOPA-PET imaging in the management of CHI.展开更多
Fetal intracranial tumors are rare,accounting for approximately 0.5%–1.9%of all pediatric tumors,though the true incidence may be underestimated.These tumors often present with distinct histopathological features,ima...Fetal intracranial tumors are rare,accounting for approximately 0.5%–1.9%of all pediatric tumors,though the true incidence may be underestimated.These tumors often present with distinct histopathological features,imaging characteristics,and clinical behavior compared to their postnatal counterparts.This review summarizes the current understanding of the prenatal diagnosis and characterization of fetal brain tumors,with a particular focus on the role of fetal magnetic resonance imaging(MRI).We discuss the advantages of advanced MR sequences in enhancing lesion detection and anatomical delineation following suspicious findings on obstetric ultrasound.Common tumor types encountered in utero—including teratomas,as-trocytomas,medulloblastomas,choroid plexus papillomas,and craniopharyngiomas—are reviewed in terms of imaging fea-tures,differential diagnosis,and clinical implications.Furthermore,the review addresses the diagnostic challenges,prognostic considerations,and the potential role of fetal MRI in guiding perinatal management and parental counseling.展开更多
Background:Congenital heart disease(CHD)results from abnormal heart development during fetal development,leading to life-threatening complications.This study aimed to evaluate the feasibility of applying myocardial pa...Background:Congenital heart disease(CHD)results from abnormal heart development during fetal development,leading to life-threatening complications.This study aimed to evaluate the feasibility of applying myocardial parametric mapping in post-mortem magnetic resonance imaging and to examine differences in the left ventricular myocardium between fetuses with CHD and controls.Methods:This prospective case–control study was conducted on 14 deceased fetuses with CHD(CHD group)and 24 fetuses without CHD(control group).Fetuses with CHD were further stratified into the cyanotic(n=9)and non-cyanotic(n=5)CHD groups.T1,T2,and proton density relaxation times of the left ventricular myocardium were calculated and compared using multiple-dynamic multiple-echo post-mortem magnetic resonance imaging technology.Results:The myocardial T2 relaxation time was significantly different between the groups(p=0.033),with no difference in T1 or proton density relaxation times between the groups.A one-way analysis of variance with Tukey's test showed that the mean cyanotic CHD group showed a longer myocardial T2 relaxation time than the control group(98.00013.143 vs.83.5429.491 ms,p=0.003).Additionally,the correlation coefficient in the CHD group was significantly different between the myocardial T2 relaxation time and peak systolic velocity of pulmonary artery on a fetal echocardiogram(r2=0.681,p=0.010).Conclusions:These results suggest that using myocardial alterations in the T2 relaxation time may provide a accurate early warning for myocardial injury and enable noninvasive recognition of cardiac involvement in fetuses with CHD.展开更多
Background:Congenital hepatic hemangioma(CHH)is a rare benign vascular tumor that occurs prenatally.However,only a few cases have been summarized and evaluated for the prenatal and postnatal imaging features of CHH,an...Background:Congenital hepatic hemangioma(CHH)is a rare benign vascular tumor that occurs prenatally.However,only a few cases have been summarized and evaluated for the prenatal and postnatal imaging features of CHH,and no studies have conducted long-term follow-up on it.This study aimed to explore the ultrasound and magnetic resonance features,growth patterns,and clinical outcomes of CHH.Methods:Thirty-six pregnancies with a prenatal fetal diagnosis and postnatal diagnosis of CHH were studied.CHHs were grouped into those with a diameter≥4 cm and those with a diameter<4 cm according to the largest diameter.Fisher's exact test was used to compare the imaging characteristics between the groups.The volume of CHHs was measured at each follow-up visit to plot the growth pattern of the tumors,and the volume of CHHs was compared before and after birth using a rank sum test analysis.Results:Thirty-three cases of CHHs were confirmed by postnatal imaging,and three were confirmed by a biopsy.Mixed echoes were more common in the diameter≥4 cm group than in the diameter<4 cm group(p=0.026).Complications were more likely to occur in the large-diameter group.Eighteen(54.5%)cases were classified as rapidly involuting congenital hemangioma,nine(27.3%)as partially involuting congenital hemangioma,and two(6.1%)as noninvoluting congenital hemangioma.A new type of CHH was identified in which four(12.1%)cases continued to proliferate after birth and spontaneously subsided in subsequent months.The CHH volume decreased with age and was significantly decreased at 9 months postnatal compared to birth(p=0.001).Conclusion:This study showed the imaging features of CHH were associated with the lesion size.Based on postnatal follow-up,a new type of CHH was identified.If there are no complications at birth in CHH cases,a good prognosis is indicated.展开更多
A 28-year-old pregnant woman with no prior obstetric complications had a normal prenatal workup before 24 weeks'gestation.At 24 weeks,ultrasound revealed gastrointestinal malformations,a persistent left superior v...A 28-year-old pregnant woman with no prior obstetric complications had a normal prenatal workup before 24 weeks'gestation.At 24 weeks,ultrasound revealed gastrointestinal malformations,a persistent left superior vena cava,and polyhydramnios.展开更多
·AIM:To identify various risk factors that may play a significant role in the development of congenital nasolacrimal duct obstruction(CNLDO).·METHODS:This observational case-control study included a case gro...·AIM:To identify various risk factors that may play a significant role in the development of congenital nasolacrimal duct obstruction(CNLDO).·METHODS:This observational case-control study included a case group of 122 children less than two years of age with CNLDO who underwent probing and irrigation treatment at the ophthalmology department of Imam Khomeini Hospital in Ahvaz,Iran,from June 2022 to June2024.A control group of 122 age-matched children without CNLDO was also included for comparison.Data was collected from the children's medical records.·RESULTS:The study found a significant correlation between the occurrence of CNLDO and several maternal factors,such as preeclampsia,the use of levothyroxine,hypothyroidism,having more than three pregnancies(gravidity>3),natural pregnancy,and gestational diabetes mellitus.Additionally,in children,factors,such as oxygen therapy,anemia,reflux,jaundice,and a family history of CNLDO in first-degree relatives were associated with CNLDO,and maternal preeclampsia and hypothyroidism were found to significantly increase the risk of developing CNLDO in children.·CONCLUSION:Given that CNLDO affects both premature and full-term children,the present findings may potentially facilitate the early identification of children and infants at risk of nasolacrimal duct obstruction,thereby preventing the onset of chronic dacryocystitis.展开更多
BACKGROUND Congenital cytomegalovirus(CMV)infection represents a significant public health concern as the most prevalent viral infection in newborns,potentially leading to severe neurological and developmental complic...BACKGROUND Congenital cytomegalovirus(CMV)infection represents a significant public health concern as the most prevalent viral infection in newborns,potentially leading to severe neurological and developmental complications.The majority of cases are asymptomatic and remain undetected during pregnancy due to the absence of effective screening methods.CASE SUMMARY A 27-year-old primigravida presented for early pregnancy ultrasound,which revealed an atypical finding:A normal anechoic thalamus appearing hyperechoic on the mid-sagittal view of the fetal head.Subsequent ultrasound examinations during mid and late gestation demonstrated classic intracranial features sug-gestive of congenital CMV infection.Chromosomal karyotyping and microarray analysis of the fetus yielded no significant abnormalities.Following compre-hensive prenatal counseling regarding potential adverse fetal outcomes,the patient elected to continue her pregnancy.She ultimately underwent cesarean delivery at 42 weeks gestation at another facility,resulting in the birth of a female neonate.At five months of age,the infant presented with epilepsy and significant growth and developmental delays.CONCLUSION Congenital CMV infection occurs during the first trimester may manifest as hyperechoic thalamus which can be revealed by ultrasound in the mid-saggital view of the fetal head.Future research should investigate the correlation between echogenic thalamus and developmental outcomes,as well as explore early sc-reening techniques for suspected congenital CMV infection cases.展开更多
BACKGROUND 2D-echocardiography(2DE)has been the primary imaging modality in children with Kawasaki disease(KD)to assess coronary arteries.AIM To report the presence and implications of incidental congenital coronary a...BACKGROUND 2D-echocardiography(2DE)has been the primary imaging modality in children with Kawasaki disease(KD)to assess coronary arteries.AIM To report the presence and implications of incidental congenital coronary artery anomalies that had been misinterpreted as coronary artery abnormalities(CAAs)on 2DE.METHODS Records of children diagnosed with KD,who underwent computed tomography coronary angiography(CTCA)at our center between 2013-2023 were reviewed.We identified 3 children with congenital coronary artery anomalies in this cohort on CTCA.Findings of CTCA and 2DE were compared in these 3 children.RESULTS Of the 241 patients with KD who underwent CTCA,3(1.24%)had congenital coronary artery anomalies on CTCA detected incidentally.In all 3 patients,baseline 2DE had identified CAAs.CTCA was then performed for detailed evaluation as per our unit protocol.One(11-year-boy)amongst the 3 patients had complete KD,while the other two(3.3-year-boy;4-month-girl)had incomplete KD.CTCA revealed separate origins of left anterior descending artery and left circumflex from left sinus[misinterpreted as dilated left main coronary artery(LCA)on 2DE],single coronary artery(interpreted as dilated LCA on 2DE)and dilated right coronary artery on 2DE in case of anomalous origin of LCA from the main pulmonary artery.The latter one was subsequently operated upon.CONCLUSION CTCA is essential for detailed assessment of coronary arteries in children with KD especially in cases where there is suspicion of congenital coronary artery anomalies.Relying solely on 2DE may not be sufficient in such cases,and findings from CTCA can significantly impact therapeutic decision-making.展开更多
BACKGROUND Congenital hypothyroidism(CH)is a prevalent childhood endocrine disorder associated with irreversible neurological consequences.Its global incidence is on the rise.AIM To estimate CH incidence in Jordan and...BACKGROUND Congenital hypothyroidism(CH)is a prevalent childhood endocrine disorder associated with irreversible neurological consequences.Its global incidence is on the rise.AIM To estimate CH incidence in Jordan and assess the potential utility of incorporating(fT4)measurements into the screening process.METHODS This retrospective analysis examined thyroid function test results for infants born at our center between 2016 and 2020.Infants born before 28 weeks and those screened after 14 days of life were excluded.Screening occurred between days 3 and 7 of life,and thyroid-stimulating hormone(TSH)and T4 levels were measured concurrently from peripheral venipuncture blood samples.A TSH cutoff of<5 mIU/L was considered normal.Values between 5 and 20 mIU/L were equivocal,requiring repeat tests.TSH levels exceeding 20 mIU/L were considered critical.RESULTS A total of 10521 infants were included in the study,and 26 were diagnosed with CH,yielding an incidence of 1 in 400 live births.Females constituted 57.7%of CH cases.All CH cases had initial TSH values exceeding 5.0 mIU/L,with clustering above 20 mIU/L.Six CH infants had Down syndrome,accounting for 23.1%of CH cases.CONCLUSION Our study revealed a high incidence of CH in Jordan,marking a significant increase from previously reported rates.We recommend a national study to investigate risk factors and underlying causes of CH in our population.Furthermore,we advocate for the use of TSH alone with a cutoff value of<5 mIU/L for screening purposes.展开更多
Objective:Many children with fully corrected congenital heart disease(CHD)avoid physicalactivity(PA).This descriptive study sought to determine child and parental factors that could predict PAlevels in Thai dhildren a...Objective:Many children with fully corrected congenital heart disease(CHD)avoid physicalactivity(PA).This descriptive study sought to determine child and parental factors that could predict PAlevels in Thai dhildren after corrective surgery.Methods:Ninety schoolaged children with fully correctedCHD were recruited from a cardiology clinic at a university hospital in northern Thailand.Data collectioninvolved five validated questionnaires:(1)the Modified Thai Adolescent's Fhysical Activity Questionnaire,(2)the Child Health Status Questionnaire-Forms I and II1,(3)the Parental Knowledge on School-agedChildrer's PhysicalActivity Scale,(4)the Perceived Self-efficacy to Physical Activity Questionnaire,and(5)the Parntal Bonding Instrument.The analysis included descriptive statistics and stepwise multipleregression.Results:Results showed that the physical activity(PA.)levels,assessed through total energyexpenditure,of child ran with CHD were below the recommended levels after treatment(t=-8.33,p<0.001).There were sigrificant correlations between PA and factors such as a child's perceived health status,PAself-efficacy,and parentaloverprotection(r=0.39,p<0.050;r=0.46,p<0.050;r=0.25,p<0.050,respectively).After adjustment for demographic data and CHD type,these factors had no association with a child's PA.Only two factors predicted childhood PA—the child's perceived health status and PA self-efficacy whichcould explain27.3%of the variance of PA.(p<0.001).Conclusion:The study highlights the necessity forinterventions to enhance childrer's perception of their health status and PA self-efficacy to increase theirphysical activity levels.展开更多
This mini-review explores the transformative potential of artificial intelligence(AI)in improving the diagnosis,management,and long-term care of congenital heart diseases(CHDs).AI offers significant advancements acros...This mini-review explores the transformative potential of artificial intelligence(AI)in improving the diagnosis,management,and long-term care of congenital heart diseases(CHDs).AI offers significant advancements across the spectrum of CHD care,from prenatal screening to postnatal management and long-term monitoring.Using AI algorithms,enhanced fetal echocardiography,and genetic tests improves prenatal diagnosis and risk stratification.Postnatally,AI revolutionizes diagnostic imaging analysis,providing more accurate and efficient identification of CHD subtypes and severity.Compared with traditional methods,advanced signal processing techniques enable a more precise assessment of hemodynamic parameters.AI-driven decision support systems tailor treatment strategies,thereby optimizing therapeutic interventions and predicting patient outcomes with greater accuracy.This personalized approach leads to better clinical outcomes and reduced morbidity.Furthermore,AI-enabled remote monitoring and wearable devices facilitate ongoing surveillance,thereby enabling early detection of complications and provision of prompt interventions.This continuous monitoring is crucial in the immediate postoperative period and throughout the patient’s life.Despite the immense potential of AI,challenges remain.These include the need for standardized datasets,the development of transparent and understandable AI algorithms,ethical considerations,and seamless integration into existing clinical workflows.Overcoming these obstacles through collaborative data sharing and responsible implementation will unlock the full potential of AI to improve the lives of patients with CHD,ultimately leading to better patient outcomes and improved quality of life.展开更多
Congenital scoliosis(CS)is a prevalent spinal deformity with a multifaceted etiology that remains incompletely understood.Recent advances in genetic and epigenetic research have provided novel insights into CS pathoge...Congenital scoliosis(CS)is a prevalent spinal deformity with a multifaceted etiology that remains incompletely understood.Recent advances in genetic and epigenetic research have provided novel insights into CS pathogenesis.Herein,we review the current progress in genetics and epigenetics to examine genetic variants,susceptibility factors,and the epigenetic regulatory mechanisms implicated in CS.Through an analysis of diverse genetic markers,chromosomal abnormalities,and epigenetic modifications,the correlation between genetic predisposition and environmental influences in CS pathogenesis is elucidated.By integrating these genetic and epigenetic findings,this study aims to clarify the underlying etiology of CS to provide guidance on future clinical interventions and promote the development of personalized therapeutic strategies.展开更多
BACKGROUND Congenital junctional ectopic tachycardia(CJET)is a rare but life-threatening arrhythmia in neonates and infants,often refractory to conventional antiar-rhythmic therapy.Ivabradine,a selective inhibitor of ...BACKGROUND Congenital junctional ectopic tachycardia(CJET)is a rare but life-threatening arrhythmia in neonates and infants,often refractory to conventional antiar-rhythmic therapy.Ivabradine,a selective inhibitor of hyperpolarization-activated cyclic nucleotide-gated channels,has emerged as a promising drug for CJET management.AIM To evaluate the efficacy and safety of ivabradine in the management of CJET.Specifically,this study aims to analyze the dosing strategies,treatment outcomes,and the role of ivabradine as monotherapy or adjunct therapy in patients who have previously received other antiarrhythmic medications.Additionally,this review seeks to assess the impact of ivabradine on heart rate(HR)control,rhythm conversion,and its overall safety profile to provide evidence-based insights into its clinical use for CJET management.METHODS This systematic review aims to evaluate the outcomes of ivabradine,either as monotherapy or as an adjunctive therapy,in the treatment of CJET.A compre-hensive literature search was conducted across multiple electronic databases to identify relevant studies investigating the use of ivabradine in CJET.Stringent inclusion and exclusion criteria were applied to ensure the inclusion of high-quality,peer-reviewed studies.Data extraction and quality assessment were performed independently by two reviewers.RESULTS Ten studies,comprising 6 case reports,3 case series,and 1 cohort study,met the inclusion criteria.Ivabradine doses ranged from 0.025 to 0.28 mg/kg/dose,administered either as monotherapy or in combination with various antiar-rhythmic medications.Overall,ivabradine demonstrated promising results in achieving HR control,conversion to sinus rhythm,or stabilization of junctional rhythm.No significant adverse effects related to ivabradine were reported.CONCLUSION The available evidence suggests that ivabradine may be an effective adjunctive therapy or,in some cases,a potential monotherapy for the management of CJET,particularly in cases refractory to traditional antiarrhythmic medications.However,the current evidence is limited by the small sample sizes and retrospective nature of the included studies.Well-designed prospective studies with larger cohorts and longer follow-up periods are warranted to further elucidate the role of ivabradine in CJET management.展开更多
BACKGROUND Congenital olfactory disorders(CODs)are rare but impactful conditions that impair the sense of smell from birth.These disorders can significantly affect a child’s appetite,nutrition,safety awareness,and ov...BACKGROUND Congenital olfactory disorders(CODs)are rare but impactful conditions that impair the sense of smell from birth.These disorders can significantly affect a child’s appetite,nutrition,safety awareness,and overall quality of life.Despite their clinical importance,treatment options for CODs remain limited and largely ineffective,with no established therapies capable of restoring olfactory function in pediatric patients.Recent advances in regenerative medicine and stem cell therapy offer promising avenues for addressing sensory deficits.Nasal epithelial stem cells have emerged as a viable candidate for therapeutic intervention due to their accessibility and intrinsic ability to differentiate into olfactory sensory neurons.Preliminary studies suggest their potential in promoting the re-generation of the olfactory epithelium and functional recovery.However,long-term data on the efficacy and safety of such approaches in children are lacking.AIM To evaluate the long-term efficacy and safety of autologous nasal epithelial stem cell transplantation for the treatment of CODs in children.METHODS This prospective,single-center study enrolled 50 children aged 3-15 years with CODs.All patients underwent autologous nasal epithelial stem cell transplantation and were followed up for 3 years.The primary outcome measure was change in olfactory function,assessed using the Sniffin’Sticks test and the University of Pennsylvania Smell Identification Test-Children’s Version.Secondary outcomes included quality of life(measured by the Pediatric Quality of Life Inventory™and a custom olfaction-specific questionnaire),safety,endoscopic evaluation,and electro-olfactogram measurements.Data were analyzed using repeated measures analysis of variance,Friedman’s test,and multiple regression analysis.RESULTS The mean composite olfactory score increased from 8.3±4.7 at baseline to 52.6±18.9 at the 3-year follow-up(P<0.001).Significant improvement(≥50%increase in score)was observed in 60%of patients,with 24%showing moderate improvement.Quality of life scores improved significantly across all domains(P<0.001).No serious adverse events were reported.Minor complications occurred in 16%of patients,which resolved within 2 weeks.Endoscopic evaluation revealed normal-appearing olfactory epithelium in 84%of patients at 3 years,compared to 24%at baseline(P<0.001).Electro-olfactogram amplitudes increased from 0.11±0.08 mV to 0.67±0.31 mV(P<0.001).Age at intervention(β=0.31,P=0.02)and baseline residual olfactory function(β=0.45,P<0.001)were positively associated with treatment outcomes.CONCLUSION Autologous nasal epithelial stem cell transplantation demonstrates significant and sustained improvements in olfactory function and quality of life in children with CODs,with a favorable safety profile over a 3-year follow-up period.This approach represents a promising advancement in the treatment of pediatric sensory disorders.展开更多
基金funded by the National Nature Science Foundation of China(No.82270309).
文摘Congenital heart disease(CHD)is the most common congenital abnormality in China with a prevalence varying from 7 to 22.9 per 1000 live births.This has caused serious disease and economic burdens at both family and societal levels[1,2].The overall prevalence of CHD was 8.44 per 1,000 live births[2],and the number of newly diagnosed patients is expected to reach a staggering 150,000 to 200,000 per year.
文摘BACKGROUND Congenital hallux varus(CHV)is a rare form of hallux varus deformity,characterized by medial deviation of the first toe at the metatarsophalangeal joint.It may be primary or secondary and presents clinically with pain and asymmetry with footwear.CASE SUMMARY We documented a case of a 6-year-old girl with bilateral CHV,accompanied by adduction of the toes in the left foot.Clinical diagnosis was made by physical examination and X-ray imaging based on Bleck’s classification.Conservative treatment did not show any noticeable improvement,so the child underwent corrective surgeries on both feet.CONCLUSION The patient’s family history is positive,which requires us to take into account the importance of checking for a family history with any complaint of CHV,and both feet must be evaluated to confirm whether the deformity is unilateral or bilateral.
文摘Women with adult congenital heart disease(CHD)face unique challenges during pregnancy,as gestational cardiovascular(CV)and hemodynamic changes can exacerbate underlying cardiac conditions.While these adaptations are well tole-rated in women with structurally and functionally normal hearts,they pose sig-nificant risks for those with adult CHD(ACHD),whether repaired,palliated,or with residual defects.Maternal CHD is associated with an increased risk of ad-verse CV events,including stroke,heart failure,arrhythmias,and thromboem-bolic complications during pregnancy and the peripartum period.Effective mana-gement requires a multidisciplinary team,including cardiologists,perinatologists,anesthesiologists,and other skilled care providers.Risk stratification tools such as the modified World Health Organization classification,CARPREG II,and ZA-HARA scores are useful for predicting maternal and fetal outcomes and guiding clinical decision-making.Preconception counseling plays a critical role in asse-ssing individual risks,optimizing cardiac function,and educating patients about potential complications.Future research should prioritize innovative therapies,including targeted pharmacological agents and minimally invasive interventions,alongside improved screening methods to identify high-risk patients before symp-tomatic disease manifests.This review synthesizes current literature on managing pregnant women with ACHD,highlights gaps in clinical practice,and explores future directions to enhance care.Addressing these challenges is essential to improving maternal and fetal outcomes and ensuring comprehensive,patient-centered care throughout the reproductive journey.
文摘BACKGROUND Congenital short bowel syndrome(CSBS)is a rare disorder characterized by a congenital shortage in the length of the small intestines,resulting in compromised intestinal functionality,frequently accompanied by congenital intestinal malrotation.This study summarizes the experience of enteral and parenteral nutrition(PN)schemes for two cases of CSBS accompanied by intestinal malrotation to provide a reference for this condition.CASE SUMMARY Case 1 underwent surgical intervention 23 days after birth,but experienced postoperative intolerance to oral feeding.Consequently,the patient was transitioned to nasal feeding for 6 months while concurrently receiving round-the-clock PN.Despite ongoing adjustments to the caloric intake of enteral and PN throughout the treatment,cholestatic liver injury persisted.Furthermore,this child developed malnutrition by the age of 1 year.Case 2 received surgical intervention on 2 days after birth,demonstrating favorable tolerance for enteral feeding and intermittent PN.The child exhibited satisfactory growth and development without any associated complications.CONCLUSION CSBS is rarely encountered in clinical practice and is often accompanied by congenital intestinal malrotation.It can be improved with early diagnosis and active surgical intervention.Thus,we recommend early initiation of total PN,which is a highly effective measure in promoting early growth and development.
文摘BACKGROUND Congenital scoliosis(CS)is a spinal deformity caused by defective segmentation and development of vertebrae during early embryogenesis.It occurs in 0.5%-1%in 1000 births and may rarely occur with congenital defects affecting the heart or genitourinary system.Truncus arteriosus(TA)is a life-threatening cardiac defect in which a single arterial trunk supplies both systemic and pulmonary circulation,leading to complications such as pulmonary hypertension,heart failure,and severe hypoxia.Although rare individually,the co-occurrence of both conditions poses unique diagnostic and therapeutic challenges,with limited documentation in medical literature.CASE SUMMARY We present a 36-week preterm neonate with CS associated with TA type 1,pre-senting with respiratory distress,cyanosis,and altered spinal curvature.This case demonstrates the complexity of managing neonates with multiple congenital de-fects.Here,the patient was managed with oxygen supplementation,heart failure medication,nasogastric feeding,and multidisciplinary care to optimize her for surgical corrections.A coordinated,interdisciplinary approach was employed to optimize outcomes,particularly in a resource-limited setting.Immediate re-spiratory and cardiovascular stabilization and long-term orthopedic and cardiac interventions were central to improving the patient’s quality of life and survival.CONCLUSION Recognizing co-existing congenital anomalies and their embryological interre-lation is critical in holistic patient care,particularly during neonatal and infancy.
文摘Pulmonary hypertension associated with congenital heart disease represents a significant challenge for clinicians due to its complex pathophysiology and diverse presentation.This patient population exhibits a broad spectrum of anatomical and hemodynamic abnormalities,with congenital heart disease-associated pulmonary arterial hypertension(PAH-CHD)comprising a significant proportion of pediatric pulmonary hypertension(PH)cases.Although progress in diagnostic methods and treatment options has been made,PH continues to be a major contributor to illness and death among affected pediatric patients,especially when diagnosis or treatment is postponed.This review aims to equip non-specialist clinicians with a better understanding of PH associated with congenital heart disease,focusing on its pathophysiology,clinical presentation,and diagnostic criteria.Key recommendations for evaluating and managing this fragile population are presented,emphasizing the importance of early recognition and multidisciplinary collaboration.As an increasing number of congenital heart disease patients reach adulthood,understanding its lifelong impacts becomes crucial for improving outcomes and creating tailored treatment approaches.
文摘Congenital hyperinsulinism(CHI) is a rare but complex heterogeneous disorder caused by unregulated secre-tion of insulin from the β-cells of the pancreas leading to severe hypoglycaemia and neuroglycopaenia. Swift diagnosis and institution of appropriate management is crucial to prevent or minimise adverse neurodevel-opmental outcome in children with CHI. Histologically there are two major subtypes of CHI, diffuse and focal disease and the management approach will significantly differ depending on the type of the lesion. Patients with medically unresponsive diffuse disease require a near total pancreatectomy, which then leads on to the de-velopment of iatrogenic diabetes mellitus and pancre-atic exocrine insufficiency. However patients with focaldisease only require a limited pancreatectomy to re-move only the focal lesion thus providing complete cure to the patient. Hence the preoperative differentiation of the histological subtypes of CHI becomes paramount in the management of CHI. Fluorine-18L-3, 4-hydroxy-phenylalanine positron emission tomography(18F-DOPA-PET) is now the gold standard for pre-operative differentiation of focal from diffuse disease and locali-sation of the focal lesion. The aim of this review article is to give a clinical overview of CHI, then review the role of dopamine in β-cell physiology and finally discuss the role of 18F-DOPA-PET imaging in the management of CHI.
基金supported by the Medical Innovation Research Special Project of Science and Technology Commission of Shanghai Municipality(Grant/Award Number:23Y11907800)Fundamental Research Funds for the Central Universities(Grant/Award Number:YG2023ZD22)Shanghai Key Laboratory of Child Brain and Development(Grant/Award Number:24dz2260100).
文摘Fetal intracranial tumors are rare,accounting for approximately 0.5%–1.9%of all pediatric tumors,though the true incidence may be underestimated.These tumors often present with distinct histopathological features,imaging characteristics,and clinical behavior compared to their postnatal counterparts.This review summarizes the current understanding of the prenatal diagnosis and characterization of fetal brain tumors,with a particular focus on the role of fetal magnetic resonance imaging(MRI).We discuss the advantages of advanced MR sequences in enhancing lesion detection and anatomical delineation following suspicious findings on obstetric ultrasound.Common tumor types encountered in utero—including teratomas,as-trocytomas,medulloblastomas,choroid plexus papillomas,and craniopharyngiomas—are reviewed in terms of imaging fea-tures,differential diagnosis,and clinical implications.Furthermore,the review addresses the diagnostic challenges,prognostic considerations,and the potential role of fetal MRI in guiding perinatal management and parental counseling.
基金supported by Zhejiang Provincial Natural Science Foundation of China(Grant/Award number:ZCLTGY24H0401)Education Department of Zhejiang Province(Grant/Award number:Y202352970).
文摘Background:Congenital heart disease(CHD)results from abnormal heart development during fetal development,leading to life-threatening complications.This study aimed to evaluate the feasibility of applying myocardial parametric mapping in post-mortem magnetic resonance imaging and to examine differences in the left ventricular myocardium between fetuses with CHD and controls.Methods:This prospective case–control study was conducted on 14 deceased fetuses with CHD(CHD group)and 24 fetuses without CHD(control group).Fetuses with CHD were further stratified into the cyanotic(n=9)and non-cyanotic(n=5)CHD groups.T1,T2,and proton density relaxation times of the left ventricular myocardium were calculated and compared using multiple-dynamic multiple-echo post-mortem magnetic resonance imaging technology.Results:The myocardial T2 relaxation time was significantly different between the groups(p=0.033),with no difference in T1 or proton density relaxation times between the groups.A one-way analysis of variance with Tukey's test showed that the mean cyanotic CHD group showed a longer myocardial T2 relaxation time than the control group(98.00013.143 vs.83.5429.491 ms,p=0.003).Additionally,the correlation coefficient in the CHD group was significantly different between the myocardial T2 relaxation time and peak systolic velocity of pulmonary artery on a fetal echocardiogram(r2=0.681,p=0.010).Conclusions:These results suggest that using myocardial alterations in the T2 relaxation time may provide a accurate early warning for myocardial injury and enable noninvasive recognition of cardiac involvement in fetuses with CHD.
文摘Background:Congenital hepatic hemangioma(CHH)is a rare benign vascular tumor that occurs prenatally.However,only a few cases have been summarized and evaluated for the prenatal and postnatal imaging features of CHH,and no studies have conducted long-term follow-up on it.This study aimed to explore the ultrasound and magnetic resonance features,growth patterns,and clinical outcomes of CHH.Methods:Thirty-six pregnancies with a prenatal fetal diagnosis and postnatal diagnosis of CHH were studied.CHHs were grouped into those with a diameter≥4 cm and those with a diameter<4 cm according to the largest diameter.Fisher's exact test was used to compare the imaging characteristics between the groups.The volume of CHHs was measured at each follow-up visit to plot the growth pattern of the tumors,and the volume of CHHs was compared before and after birth using a rank sum test analysis.Results:Thirty-three cases of CHHs were confirmed by postnatal imaging,and three were confirmed by a biopsy.Mixed echoes were more common in the diameter≥4 cm group than in the diameter<4 cm group(p=0.026).Complications were more likely to occur in the large-diameter group.Eighteen(54.5%)cases were classified as rapidly involuting congenital hemangioma,nine(27.3%)as partially involuting congenital hemangioma,and two(6.1%)as noninvoluting congenital hemangioma.A new type of CHH was identified in which four(12.1%)cases continued to proliferate after birth and spontaneously subsided in subsequent months.The CHH volume decreased with age and was significantly decreased at 9 months postnatal compared to birth(p=0.001).Conclusion:This study showed the imaging features of CHH were associated with the lesion size.Based on postnatal follow-up,a new type of CHH was identified.If there are no complications at birth in CHH cases,a good prognosis is indicated.
基金supported by the Natural Science Foundation of Zhejiang Province(Grant number:LGF22H040003).
文摘A 28-year-old pregnant woman with no prior obstetric complications had a normal prenatal workup before 24 weeks'gestation.At 24 weeks,ultrasound revealed gastrointestinal malformations,a persistent left superior vena cava,and polyhydramnios.
文摘·AIM:To identify various risk factors that may play a significant role in the development of congenital nasolacrimal duct obstruction(CNLDO).·METHODS:This observational case-control study included a case group of 122 children less than two years of age with CNLDO who underwent probing and irrigation treatment at the ophthalmology department of Imam Khomeini Hospital in Ahvaz,Iran,from June 2022 to June2024.A control group of 122 age-matched children without CNLDO was also included for comparison.Data was collected from the children's medical records.·RESULTS:The study found a significant correlation between the occurrence of CNLDO and several maternal factors,such as preeclampsia,the use of levothyroxine,hypothyroidism,having more than three pregnancies(gravidity>3),natural pregnancy,and gestational diabetes mellitus.Additionally,in children,factors,such as oxygen therapy,anemia,reflux,jaundice,and a family history of CNLDO in first-degree relatives were associated with CNLDO,and maternal preeclampsia and hypothyroidism were found to significantly increase the risk of developing CNLDO in children.·CONCLUSION:Given that CNLDO affects both premature and full-term children,the present findings may potentially facilitate the early identification of children and infants at risk of nasolacrimal duct obstruction,thereby preventing the onset of chronic dacryocystitis.
文摘BACKGROUND Congenital cytomegalovirus(CMV)infection represents a significant public health concern as the most prevalent viral infection in newborns,potentially leading to severe neurological and developmental complications.The majority of cases are asymptomatic and remain undetected during pregnancy due to the absence of effective screening methods.CASE SUMMARY A 27-year-old primigravida presented for early pregnancy ultrasound,which revealed an atypical finding:A normal anechoic thalamus appearing hyperechoic on the mid-sagittal view of the fetal head.Subsequent ultrasound examinations during mid and late gestation demonstrated classic intracranial features sug-gestive of congenital CMV infection.Chromosomal karyotyping and microarray analysis of the fetus yielded no significant abnormalities.Following compre-hensive prenatal counseling regarding potential adverse fetal outcomes,the patient elected to continue her pregnancy.She ultimately underwent cesarean delivery at 42 weeks gestation at another facility,resulting in the birth of a female neonate.At five months of age,the infant presented with epilepsy and significant growth and developmental delays.CONCLUSION Congenital CMV infection occurs during the first trimester may manifest as hyperechoic thalamus which can be revealed by ultrasound in the mid-saggital view of the fetal head.Future research should investigate the correlation between echogenic thalamus and developmental outcomes,as well as explore early sc-reening techniques for suspected congenital CMV infection cases.
文摘BACKGROUND 2D-echocardiography(2DE)has been the primary imaging modality in children with Kawasaki disease(KD)to assess coronary arteries.AIM To report the presence and implications of incidental congenital coronary artery anomalies that had been misinterpreted as coronary artery abnormalities(CAAs)on 2DE.METHODS Records of children diagnosed with KD,who underwent computed tomography coronary angiography(CTCA)at our center between 2013-2023 were reviewed.We identified 3 children with congenital coronary artery anomalies in this cohort on CTCA.Findings of CTCA and 2DE were compared in these 3 children.RESULTS Of the 241 patients with KD who underwent CTCA,3(1.24%)had congenital coronary artery anomalies on CTCA detected incidentally.In all 3 patients,baseline 2DE had identified CAAs.CTCA was then performed for detailed evaluation as per our unit protocol.One(11-year-boy)amongst the 3 patients had complete KD,while the other two(3.3-year-boy;4-month-girl)had incomplete KD.CTCA revealed separate origins of left anterior descending artery and left circumflex from left sinus[misinterpreted as dilated left main coronary artery(LCA)on 2DE],single coronary artery(interpreted as dilated LCA on 2DE)and dilated right coronary artery on 2DE in case of anomalous origin of LCA from the main pulmonary artery.The latter one was subsequently operated upon.CONCLUSION CTCA is essential for detailed assessment of coronary arteries in children with KD especially in cases where there is suspicion of congenital coronary artery anomalies.Relying solely on 2DE may not be sufficient in such cases,and findings from CTCA can significantly impact therapeutic decision-making.
文摘BACKGROUND Congenital hypothyroidism(CH)is a prevalent childhood endocrine disorder associated with irreversible neurological consequences.Its global incidence is on the rise.AIM To estimate CH incidence in Jordan and assess the potential utility of incorporating(fT4)measurements into the screening process.METHODS This retrospective analysis examined thyroid function test results for infants born at our center between 2016 and 2020.Infants born before 28 weeks and those screened after 14 days of life were excluded.Screening occurred between days 3 and 7 of life,and thyroid-stimulating hormone(TSH)and T4 levels were measured concurrently from peripheral venipuncture blood samples.A TSH cutoff of<5 mIU/L was considered normal.Values between 5 and 20 mIU/L were equivocal,requiring repeat tests.TSH levels exceeding 20 mIU/L were considered critical.RESULTS A total of 10521 infants were included in the study,and 26 were diagnosed with CH,yielding an incidence of 1 in 400 live births.Females constituted 57.7%of CH cases.All CH cases had initial TSH values exceeding 5.0 mIU/L,with clustering above 20 mIU/L.Six CH infants had Down syndrome,accounting for 23.1%of CH cases.CONCLUSION Our study revealed a high incidence of CH in Jordan,marking a significant increase from previously reported rates.We recommend a national study to investigate risk factors and underlying causes of CH in our population.Furthermore,we advocate for the use of TSH alone with a cutoff value of<5 mIU/L for screening purposes.
基金the Chiang Mai University Junior ResearchFellowship Program.
文摘Objective:Many children with fully corrected congenital heart disease(CHD)avoid physicalactivity(PA).This descriptive study sought to determine child and parental factors that could predict PAlevels in Thai dhildren after corrective surgery.Methods:Ninety schoolaged children with fully correctedCHD were recruited from a cardiology clinic at a university hospital in northern Thailand.Data collectioninvolved five validated questionnaires:(1)the Modified Thai Adolescent's Fhysical Activity Questionnaire,(2)the Child Health Status Questionnaire-Forms I and II1,(3)the Parental Knowledge on School-agedChildrer's PhysicalActivity Scale,(4)the Perceived Self-efficacy to Physical Activity Questionnaire,and(5)the Parntal Bonding Instrument.The analysis included descriptive statistics and stepwise multipleregression.Results:Results showed that the physical activity(PA.)levels,assessed through total energyexpenditure,of child ran with CHD were below the recommended levels after treatment(t=-8.33,p<0.001).There were sigrificant correlations between PA and factors such as a child's perceived health status,PAself-efficacy,and parentaloverprotection(r=0.39,p<0.050;r=0.46,p<0.050;r=0.25,p<0.050,respectively).After adjustment for demographic data and CHD type,these factors had no association with a child's PA.Only two factors predicted childhood PA—the child's perceived health status and PA self-efficacy whichcould explain27.3%of the variance of PA.(p<0.001).Conclusion:The study highlights the necessity forinterventions to enhance childrer's perception of their health status and PA self-efficacy to increase theirphysical activity levels.
文摘This mini-review explores the transformative potential of artificial intelligence(AI)in improving the diagnosis,management,and long-term care of congenital heart diseases(CHDs).AI offers significant advancements across the spectrum of CHD care,from prenatal screening to postnatal management and long-term monitoring.Using AI algorithms,enhanced fetal echocardiography,and genetic tests improves prenatal diagnosis and risk stratification.Postnatally,AI revolutionizes diagnostic imaging analysis,providing more accurate and efficient identification of CHD subtypes and severity.Compared with traditional methods,advanced signal processing techniques enable a more precise assessment of hemodynamic parameters.AI-driven decision support systems tailor treatment strategies,thereby optimizing therapeutic interventions and predicting patient outcomes with greater accuracy.This personalized approach leads to better clinical outcomes and reduced morbidity.Furthermore,AI-enabled remote monitoring and wearable devices facilitate ongoing surveillance,thereby enabling early detection of complications and provision of prompt interventions.This continuous monitoring is crucial in the immediate postoperative period and throughout the patient’s life.Despite the immense potential of AI,challenges remain.These include the need for standardized datasets,the development of transparent and understandable AI algorithms,ethical considerations,and seamless integration into existing clinical workflows.Overcoming these obstacles through collaborative data sharing and responsible implementation will unlock the full potential of AI to improve the lives of patients with CHD,ultimately leading to better patient outcomes and improved quality of life.
基金Supported by the National Natural Science Foundation of China,No.82460940Major Project of Gansu Province Joint Fund,No.23JRRA1519+2 种基金Key Science and Technology Project of Gansu Province,No.21ZD4FA009Natural Science Foundation of Gansu Province,No.24JRRA1040Gansu Province Famous Traditional Chinese Medicine Inheritance Studio Project。
文摘Congenital scoliosis(CS)is a prevalent spinal deformity with a multifaceted etiology that remains incompletely understood.Recent advances in genetic and epigenetic research have provided novel insights into CS pathogenesis.Herein,we review the current progress in genetics and epigenetics to examine genetic variants,susceptibility factors,and the epigenetic regulatory mechanisms implicated in CS.Through an analysis of diverse genetic markers,chromosomal abnormalities,and epigenetic modifications,the correlation between genetic predisposition and environmental influences in CS pathogenesis is elucidated.By integrating these genetic and epigenetic findings,this study aims to clarify the underlying etiology of CS to provide guidance on future clinical interventions and promote the development of personalized therapeutic strategies.
文摘BACKGROUND Congenital junctional ectopic tachycardia(CJET)is a rare but life-threatening arrhythmia in neonates and infants,often refractory to conventional antiar-rhythmic therapy.Ivabradine,a selective inhibitor of hyperpolarization-activated cyclic nucleotide-gated channels,has emerged as a promising drug for CJET management.AIM To evaluate the efficacy and safety of ivabradine in the management of CJET.Specifically,this study aims to analyze the dosing strategies,treatment outcomes,and the role of ivabradine as monotherapy or adjunct therapy in patients who have previously received other antiarrhythmic medications.Additionally,this review seeks to assess the impact of ivabradine on heart rate(HR)control,rhythm conversion,and its overall safety profile to provide evidence-based insights into its clinical use for CJET management.METHODS This systematic review aims to evaluate the outcomes of ivabradine,either as monotherapy or as an adjunctive therapy,in the treatment of CJET.A compre-hensive literature search was conducted across multiple electronic databases to identify relevant studies investigating the use of ivabradine in CJET.Stringent inclusion and exclusion criteria were applied to ensure the inclusion of high-quality,peer-reviewed studies.Data extraction and quality assessment were performed independently by two reviewers.RESULTS Ten studies,comprising 6 case reports,3 case series,and 1 cohort study,met the inclusion criteria.Ivabradine doses ranged from 0.025 to 0.28 mg/kg/dose,administered either as monotherapy or in combination with various antiar-rhythmic medications.Overall,ivabradine demonstrated promising results in achieving HR control,conversion to sinus rhythm,or stabilization of junctional rhythm.No significant adverse effects related to ivabradine were reported.CONCLUSION The available evidence suggests that ivabradine may be an effective adjunctive therapy or,in some cases,a potential monotherapy for the management of CJET,particularly in cases refractory to traditional antiarrhythmic medications.However,the current evidence is limited by the small sample sizes and retrospective nature of the included studies.Well-designed prospective studies with larger cohorts and longer follow-up periods are warranted to further elucidate the role of ivabradine in CJET management.
基金Supported by Hangzhou Medical and Health Technology Project,No.B20210443.
文摘BACKGROUND Congenital olfactory disorders(CODs)are rare but impactful conditions that impair the sense of smell from birth.These disorders can significantly affect a child’s appetite,nutrition,safety awareness,and overall quality of life.Despite their clinical importance,treatment options for CODs remain limited and largely ineffective,with no established therapies capable of restoring olfactory function in pediatric patients.Recent advances in regenerative medicine and stem cell therapy offer promising avenues for addressing sensory deficits.Nasal epithelial stem cells have emerged as a viable candidate for therapeutic intervention due to their accessibility and intrinsic ability to differentiate into olfactory sensory neurons.Preliminary studies suggest their potential in promoting the re-generation of the olfactory epithelium and functional recovery.However,long-term data on the efficacy and safety of such approaches in children are lacking.AIM To evaluate the long-term efficacy and safety of autologous nasal epithelial stem cell transplantation for the treatment of CODs in children.METHODS This prospective,single-center study enrolled 50 children aged 3-15 years with CODs.All patients underwent autologous nasal epithelial stem cell transplantation and were followed up for 3 years.The primary outcome measure was change in olfactory function,assessed using the Sniffin’Sticks test and the University of Pennsylvania Smell Identification Test-Children’s Version.Secondary outcomes included quality of life(measured by the Pediatric Quality of Life Inventory™and a custom olfaction-specific questionnaire),safety,endoscopic evaluation,and electro-olfactogram measurements.Data were analyzed using repeated measures analysis of variance,Friedman’s test,and multiple regression analysis.RESULTS The mean composite olfactory score increased from 8.3±4.7 at baseline to 52.6±18.9 at the 3-year follow-up(P<0.001).Significant improvement(≥50%increase in score)was observed in 60%of patients,with 24%showing moderate improvement.Quality of life scores improved significantly across all domains(P<0.001).No serious adverse events were reported.Minor complications occurred in 16%of patients,which resolved within 2 weeks.Endoscopic evaluation revealed normal-appearing olfactory epithelium in 84%of patients at 3 years,compared to 24%at baseline(P<0.001).Electro-olfactogram amplitudes increased from 0.11±0.08 mV to 0.67±0.31 mV(P<0.001).Age at intervention(β=0.31,P=0.02)and baseline residual olfactory function(β=0.45,P<0.001)were positively associated with treatment outcomes.CONCLUSION Autologous nasal epithelial stem cell transplantation demonstrates significant and sustained improvements in olfactory function and quality of life in children with CODs,with a favorable safety profile over a 3-year follow-up period.This approach represents a promising advancement in the treatment of pediatric sensory disorders.
