Dear Editor,We reported a Chinese family carrying a novel Crumbs homologue 1(CRB1)variant(c.1737_1755del).Consanguineous marriage resulted in a homozygous mutation,leading to the onset of Leber congenital amaurosis(LC...Dear Editor,We reported a Chinese family carrying a novel Crumbs homologue 1(CRB1)variant(c.1737_1755del).Consanguineous marriage resulted in a homozygous mutation,leading to the onset of Leber congenital amaurosis(LCA)in their offspring.展开更多
BACKGROUND There is a possible link between depression and anxiety about suicidal ideation among parents of children with congenital heart disease(CHD).AIM To document the effects of depression and anxiety on parental...BACKGROUND There is a possible link between depression and anxiety about suicidal ideation among parents of children with congenital heart disease(CHD).AIM To document the effects of depression and anxiety on parental suicidal ideation among children with CHD and the associated factors.METHODS This was a cross-sectional study among 50 parents of children with CHD who attended the Cardiac Clinic of University of Nigeria Teaching Hospital Ituku-Ozalla.Information was obtained using the Columbia Suicide Severity Rating Scale and the Hospital Anxiety and Depression Scale.RESULTS A greater percentage of parents whose child had a heart defect had anxiety symptoms(50.0%)than did those whose child had no heart defect(24.0%),and the difference in proportions was statistically significant(χ^(2)=7.250,P=0.007).A greater percentage of parents whose child had a heart defect had suicidal ideation(28.0%)than did those whose child had no heart defect(8.0%),and the difference in proportions was statistically significant(χ^(2)=6.775 P=0.009).A positive correlation was elicited between anxiety and suicide ideation,and this correlation was statistically significant(r=0.748,P<0.001).A positive correlation was elicited between depression and suicidal ideation scores,and this was statistically significant(r=0.617,P<0.001).CONCLUSION There is strong interconnectivity between anxiety and depression with suicidal ideation.There is an urgent need to start screening for the mental health of parents of children with CHD to avert the high propensity of complete suicide.In addition,policy makers may introduce a national clinical practice guideline on the importance of psychotherapy and mental health screening and targeted interventions for parents of children with CHD.展开更多
BACKGROUND Congenital hypothyroidism(CH)is a common condition in both preterm and term infants characterized by either thyroid gland absence or hypofunctionality.The clinical association of refractory lactic acidosis ...BACKGROUND Congenital hypothyroidism(CH)is a common condition in both preterm and term infants characterized by either thyroid gland absence or hypofunctionality.The clinical association of refractory lactic acidosis and heart failure has rarely been observed in cases of pediatric patients with CH pathology.Here,we explored the etiological relationship between CH,heart failure,and refractory lactic acidosis to reflect the importance of thyroid function screening in neonates with heart disease.CASE SUMMARY A 33-day-old extremely premature female infant presented with tachypnea,respiratory distress,recurrent infections,and abdominal distension postnatal.On admission to our facility,she had cardiomegaly,hepatomegaly,and lactic acidosis(revealed on blood gas analysis),with lactate progressively rising to 25 mmol/L.Chest radiographs showed pulmonary congestion,while echocardiography revealed cardiac enlargement,left ventricular wall thickening,and pericardial effusion.Initial management aimed at correcting acidosis and treating heart failure proved ineffective.After reassessment,thyroid function tests showed significantly decreased triiodothyronine,free triiodothyronine,thyroxine,and free thyroxine levels,with a significantly increased thyroidstimulating hormone level,confirming a CH diagnosis.Levothyroxine was administered,resulting in rapid correction of lactic acidosis and gradual improvement of thyroid function and systemic symptoms,culminating in full recovery and discharge.We also reviewed the relevant literature on thyroid and cardiac dysfunctions in order to explore their deeper association.CONCLUSION This case links CH-induced heart failure with refractory lactic acidosis,urging prompt thyroid screening in affected neonates to reduce mortality.展开更多
AIM:To assess the success rate of lacrimal sac hydrostatic pressure application(HPA)maneuver,a conservative office procedure for treatment of congenital nasolacrimal duct obstruction(CNLDO).METHODS:The medical records...AIM:To assess the success rate of lacrimal sac hydrostatic pressure application(HPA)maneuver,a conservative office procedure for treatment of congenital nasolacrimal duct obstruction(CNLDO).METHODS:The medical records of pediatric patients,36mo old or younger,diagnosed with CNLDO between the years 2016-2022,were retrospectively reviewed.In all children,HPA was performed by a pediatric ophthalmologist.Success was defined as the resolution of epiphora and discharge within 48h of the intervention.RESULTS:A total of 281 eyes(194 patients)with CNLDO underwent HPA.Follow-up data were available for 261 eyes(179 patients,50.3%male)and these patients were included in the analysis.The mean follow-up time was 11.6±13mo.Ninety-seven patients(54.2%)had unilateral nasolacrimal duct obstruction,while 82 patients(45.8%)had bilateral CNLDO.The mean age at the time of HPA was 5.8±5.9mo.Complete resolution of symptoms was achieved in 102(39.1%)eyes.Patients 6mo old or younger at the time of HPA had a significantly higher success rate compared to patients older than 6mo(43.7%vs 30.9%,P=0.04).Younger age at the time of pressure application was associated with a higher resolution rate of CNLDO(OR 0.93,P=0.004).Sex assigned at birth,prematurity,laterality of the obstruction and type of symptoms(epiphora,discharge)were not correlated with success.A second HPA was performed in 46 eyes,with resolution of symptoms in 12 eyes(26.1%).CONCLUSION:Hydrostatic pressure applied on the lacrimal sac by an experienced ophthalmologist or an experienced pediatrician may be an effective treatment for CNLDO.We recommend HPA as an initial active conservative approach in all pediatric patients with CNLDO,especially those younger than 6mo.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
BACKGROUND Congenital intestinal atresia(CIA)is a common intestinal malformation in the neonatal period,and surgery is currently the main treatment method.The choice of postoperative feeding is crucial for the recover...BACKGROUND Congenital intestinal atresia(CIA)is a common intestinal malformation in the neonatal period,and surgery is currently the main treatment method.The choice of postoperative feeding is crucial for the recovery of gastrointestinal function in children.AIM To compare and analyze the effects of different postoperative feeding methods on gastrointestinal function reconstruction in newborns with CIA.METHODS Twenty-six children diagnosed with neonatal CIA,treated with minimally invasive surgery at Shijiazhuang Maternal and Child Health Hospital between January 2021 and May 2024,were selected for this single-center prospective randomized controlled study.They were divided into two groups using envelope randomization:Enteral nutrition(EN)group(n=13)and parenteral nutrition(PN)group(n=13).Baseline and clinical characteristics were collected,and recovery time of bowel sounds and time to first defecation were used as evaluation indices for gastrointestinal functional reconstruction.Differences between the groups were analyzed using t-test,χ2 test,and Fisher’s exact test.Spearman’s correlation tests and linear regression models were employed to analyze factors influencing time to first defecation.RESULTS The time to bowel sound recovery(51.54 vs 65.85,P=0.013)and first defecation(58.15 vs 76.62,P<0.001)was shorter in the EN group compared to the PN group.Clinical improvements in the EN group,including discharge weight(P=0.044),hospital stay(P=0.027),white blood cell count(P=0.023),albumin content(P=0.013),and direct bilirubin content(P=0.018),were also better than those in the PN group.No substantial differences in postoperative complications were found between the groups.Correlation analysis indicated that abdominal infection and operation time may relate to time to first defecation.Linear regression analysis demonstrated a considerable association between EN feeding and shorter time to first defecation.Abdominal infection and an operation time>2 hours may be risk factors for prolonged time to first defecation.CONCLUSION EN substantially promotes the recovery of gastrointestinal function after CIA in neonates and can improve clinical outcomes in children.Future research should explore optimal EN practices to enhance clinical application and child health.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
The electrical activity of the human heart,recorded via an electrocardiogram(ECG),is characterized by distinct waveforms such as the P wave,QRS complex,and T wave.By analyzing the duration,morphology,and intervals bet...The electrical activity of the human heart,recorded via an electrocardiogram(ECG),is characterized by distinct waveforms such as the P wave,QRS complex,and T wave.By analyzing the duration,morphology,and intervals between these waveforms,various cardiac disorders can be identified.This study aims to develop a deep learning-based approach for the accurate classification of congenital heart disease(CHD)using ECG data.We employed convolutional neural networks(CNNs)and recurrent neural networks(RNNs)to analyze ECG signals,leveraging their ability to detect multiple features in time-series data.A deep learning model was developed and trained using features such as estimated peak locations,inter-peak intervals,and other ECG parameters.To address class imbalance,we applied the synthetic minority oversampling technique(SMOTE),which generates synthetic samples to balance each class.The analysis was conducted using the MIT-BIH Arrhythmia Database,enabling CHD classification based on ECG patterns.The proposed method improved classification accuracy by effectively balancing the dataset with SMOTE.Compared to conventional methods,the deep learning algorithms demonstrated robust performance in analyzing ECG data and detecting disease-related patterns,achieving superior results.This study highlights the potential of CNNs and RNNs for classifying CHD from ECG signals.By mitigating data imbalance with SMOTE,the approach enhances both accuracy and reliability.Future work will focus on validating the model with additional datasets and addressing real-world challenges such as noise handling and external validation.展开更多
基金Supported by the National Natural Science Foundation of China(No.81970804)Natural Science Foundation of Hunan Province(No.2021JJ30949).
文摘Dear Editor,We reported a Chinese family carrying a novel Crumbs homologue 1(CRB1)variant(c.1737_1755del).Consanguineous marriage resulted in a homozygous mutation,leading to the onset of Leber congenital amaurosis(LCA)in their offspring.
文摘BACKGROUND There is a possible link between depression and anxiety about suicidal ideation among parents of children with congenital heart disease(CHD).AIM To document the effects of depression and anxiety on parental suicidal ideation among children with CHD and the associated factors.METHODS This was a cross-sectional study among 50 parents of children with CHD who attended the Cardiac Clinic of University of Nigeria Teaching Hospital Ituku-Ozalla.Information was obtained using the Columbia Suicide Severity Rating Scale and the Hospital Anxiety and Depression Scale.RESULTS A greater percentage of parents whose child had a heart defect had anxiety symptoms(50.0%)than did those whose child had no heart defect(24.0%),and the difference in proportions was statistically significant(χ^(2)=7.250,P=0.007).A greater percentage of parents whose child had a heart defect had suicidal ideation(28.0%)than did those whose child had no heart defect(8.0%),and the difference in proportions was statistically significant(χ^(2)=6.775 P=0.009).A positive correlation was elicited between anxiety and suicide ideation,and this correlation was statistically significant(r=0.748,P<0.001).A positive correlation was elicited between depression and suicidal ideation scores,and this was statistically significant(r=0.617,P<0.001).CONCLUSION There is strong interconnectivity between anxiety and depression with suicidal ideation.There is an urgent need to start screening for the mental health of parents of children with CHD to avert the high propensity of complete suicide.In addition,policy makers may introduce a national clinical practice guideline on the importance of psychotherapy and mental health screening and targeted interventions for parents of children with CHD.
文摘BACKGROUND Congenital hypothyroidism(CH)is a common condition in both preterm and term infants characterized by either thyroid gland absence or hypofunctionality.The clinical association of refractory lactic acidosis and heart failure has rarely been observed in cases of pediatric patients with CH pathology.Here,we explored the etiological relationship between CH,heart failure,and refractory lactic acidosis to reflect the importance of thyroid function screening in neonates with heart disease.CASE SUMMARY A 33-day-old extremely premature female infant presented with tachypnea,respiratory distress,recurrent infections,and abdominal distension postnatal.On admission to our facility,she had cardiomegaly,hepatomegaly,and lactic acidosis(revealed on blood gas analysis),with lactate progressively rising to 25 mmol/L.Chest radiographs showed pulmonary congestion,while echocardiography revealed cardiac enlargement,left ventricular wall thickening,and pericardial effusion.Initial management aimed at correcting acidosis and treating heart failure proved ineffective.After reassessment,thyroid function tests showed significantly decreased triiodothyronine,free triiodothyronine,thyroxine,and free thyroxine levels,with a significantly increased thyroidstimulating hormone level,confirming a CH diagnosis.Levothyroxine was administered,resulting in rapid correction of lactic acidosis and gradual improvement of thyroid function and systemic symptoms,culminating in full recovery and discharge.We also reviewed the relevant literature on thyroid and cardiac dysfunctions in order to explore their deeper association.CONCLUSION This case links CH-induced heart failure with refractory lactic acidosis,urging prompt thyroid screening in affected neonates to reduce mortality.
文摘AIM:To assess the success rate of lacrimal sac hydrostatic pressure application(HPA)maneuver,a conservative office procedure for treatment of congenital nasolacrimal duct obstruction(CNLDO).METHODS:The medical records of pediatric patients,36mo old or younger,diagnosed with CNLDO between the years 2016-2022,were retrospectively reviewed.In all children,HPA was performed by a pediatric ophthalmologist.Success was defined as the resolution of epiphora and discharge within 48h of the intervention.RESULTS:A total of 281 eyes(194 patients)with CNLDO underwent HPA.Follow-up data were available for 261 eyes(179 patients,50.3%male)and these patients were included in the analysis.The mean follow-up time was 11.6±13mo.Ninety-seven patients(54.2%)had unilateral nasolacrimal duct obstruction,while 82 patients(45.8%)had bilateral CNLDO.The mean age at the time of HPA was 5.8±5.9mo.Complete resolution of symptoms was achieved in 102(39.1%)eyes.Patients 6mo old or younger at the time of HPA had a significantly higher success rate compared to patients older than 6mo(43.7%vs 30.9%,P=0.04).Younger age at the time of pressure application was associated with a higher resolution rate of CNLDO(OR 0.93,P=0.004).Sex assigned at birth,prematurity,laterality of the obstruction and type of symptoms(epiphora,discharge)were not correlated with success.A second HPA was performed in 46 eyes,with resolution of symptoms in 12 eyes(26.1%).CONCLUSION:Hydrostatic pressure applied on the lacrimal sac by an experienced ophthalmologist or an experienced pediatrician may be an effective treatment for CNLDO.We recommend HPA as an initial active conservative approach in all pediatric patients with CNLDO,especially those younger than 6mo.
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.
文摘BACKGROUND Congenital intestinal atresia(CIA)is a common intestinal malformation in the neonatal period,and surgery is currently the main treatment method.The choice of postoperative feeding is crucial for the recovery of gastrointestinal function in children.AIM To compare and analyze the effects of different postoperative feeding methods on gastrointestinal function reconstruction in newborns with CIA.METHODS Twenty-six children diagnosed with neonatal CIA,treated with minimally invasive surgery at Shijiazhuang Maternal and Child Health Hospital between January 2021 and May 2024,were selected for this single-center prospective randomized controlled study.They were divided into two groups using envelope randomization:Enteral nutrition(EN)group(n=13)and parenteral nutrition(PN)group(n=13).Baseline and clinical characteristics were collected,and recovery time of bowel sounds and time to first defecation were used as evaluation indices for gastrointestinal functional reconstruction.Differences between the groups were analyzed using t-test,χ2 test,and Fisher’s exact test.Spearman’s correlation tests and linear regression models were employed to analyze factors influencing time to first defecation.RESULTS The time to bowel sound recovery(51.54 vs 65.85,P=0.013)and first defecation(58.15 vs 76.62,P<0.001)was shorter in the EN group compared to the PN group.Clinical improvements in the EN group,including discharge weight(P=0.044),hospital stay(P=0.027),white blood cell count(P=0.023),albumin content(P=0.013),and direct bilirubin content(P=0.018),were also better than those in the PN group.No substantial differences in postoperative complications were found between the groups.Correlation analysis indicated that abdominal infection and operation time may relate to time to first defecation.Linear regression analysis demonstrated a considerable association between EN feeding and shorter time to first defecation.Abdominal infection and an operation time>2 hours may be risk factors for prolonged time to first defecation.CONCLUSION EN substantially promotes the recovery of gastrointestinal function after CIA in neonates and can improve clinical outcomes in children.Future research should explore optimal EN practices to enhance clinical application and child health.
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.
文摘The electrical activity of the human heart,recorded via an electrocardiogram(ECG),is characterized by distinct waveforms such as the P wave,QRS complex,and T wave.By analyzing the duration,morphology,and intervals between these waveforms,various cardiac disorders can be identified.This study aims to develop a deep learning-based approach for the accurate classification of congenital heart disease(CHD)using ECG data.We employed convolutional neural networks(CNNs)and recurrent neural networks(RNNs)to analyze ECG signals,leveraging their ability to detect multiple features in time-series data.A deep learning model was developed and trained using features such as estimated peak locations,inter-peak intervals,and other ECG parameters.To address class imbalance,we applied the synthetic minority oversampling technique(SMOTE),which generates synthetic samples to balance each class.The analysis was conducted using the MIT-BIH Arrhythmia Database,enabling CHD classification based on ECG patterns.The proposed method improved classification accuracy by effectively balancing the dataset with SMOTE.Compared to conventional methods,the deep learning algorithms demonstrated robust performance in analyzing ECG data and detecting disease-related patterns,achieving superior results.This study highlights the potential of CNNs and RNNs for classifying CHD from ECG signals.By mitigating data imbalance with SMOTE,the approach enhances both accuracy and reliability.Future work will focus on validating the model with additional datasets and addressing real-world challenges such as noise handling and external validation.
