BACKGROUND Morgagni hernias are rare anomalies that are easily misdiagnosed or missed.AIM To summarize the ultrasound(US)imaging characteristics of Morgagni hernias through a comparison of imaging and surgical results...BACKGROUND Morgagni hernias are rare anomalies that are easily misdiagnosed or missed.AIM To summarize the ultrasound(US)imaging characteristics of Morgagni hernias through a comparison of imaging and surgical results.METHODS The records of children with Morgagni hernias who were hospitalized at two hospitals between January 2013 and November 2023 were retrospectively re-viewed in terms of clinical findings,US features,and operative details.RESULTS Between 2013 and 2023,we observed nine(five male and four female)children with Morgagni hernias.Upper abdominal scanning revealed a widening of the prehepatic space,with an abnormal channel extending from the xiphoid process to the right or left side of the thoracic cavity.The channel had intestinal duct and intestinal gas echoes.Hernia contents were found in the transverse colon(n=6),the colon and small intestine(n=2),and the colon and stomach(n=1).Among the patients,seven had a right-sided lesion,two had a left-sided lesion,and all of them had hernial sacs.CONCLUSION US imaging can accurately determine the location,extent,and content of Morgagni hernias.For suspected Mor-gagni hernias,we recommend performing sonographic screening first.展开更多
Congenital hernia of the diaphragmatic dome (CHDD) is an embryonic malformation in which all or part of the diaphragmatic dome fails to develop properly. In the majority of cases (80% to 90%), this malformation affect...Congenital hernia of the diaphragmatic dome (CHDD) is an embryonic malformation in which all or part of the diaphragmatic dome fails to develop properly. In the majority of cases (80% to 90%), this malformation affects the left posterolateral part of the diaphragm, while in 10% to 15% of cases it affects the right. Bilateral cases are extremely rare, accounting for less than 1% of cases. This malformation is estimated to occur at a frequency of around 1 in 3500 births, with a male predominance. The diaphragmatic defect causes the abdominal organs to rise into the thoracic cavity during critical phases of lung development. These anomalies result in bilateral pulmonary hypoplasia, a reduced number of pulmonary vessels, and pulmonary arterial hypertension (PAH). The combination of these anatomical and functional anomalies, in varying degrees, explains the wide variability of symptoms at birth. Diagnosis is usually made prenatally by ultrasound, which enables severe forms of the disease to be detected and appropriate management initiated. The prognosis remains generally grave, with a neonatal mortality rate of between 30% and 60% depending on the study, and around half of all children will have long-term sequelae.展开更多
AIM:To evaluate the effect of lens surgery on health-related quality of life(HRQoL)of preschool children with congenital ectopia lentis(CEL).METHODS:A prospective self-controlled study was conducted in Zhongshan Ophth...AIM:To evaluate the effect of lens surgery on health-related quality of life(HRQoL)of preschool children with congenital ectopia lentis(CEL).METHODS:A prospective self-controlled study was conducted in Zhongshan Ophthalmic Center.Children aged from 5 to 7y whom were diagnosed with CEL and underwent phacoemulsification with scleral-fixated posterior chamber intraocular lens implantation and their parents were enrolled in this study.All of them completed the child and proxy(parental)PedsQL™4.0 before and after the surgery.Their preoperative scores were compared to their postoperative ones.Subgroup analyses were performed based on gender and preoperative bilateral presenting visual acuity of the children.RESULTS:Thirty-two children with CEL successfully underwent surgery without any complications,among whom 8 had monocular surgery and 24 had binocular surgery.Preoperative and postoperative questionnaires were completed by 32 child-parent pairs.Surgical intervention could significantly improve the vision of affected children(P<0.001).The medians of physical,psychosocial and total health scores self-reported by the children were 68.75(62.50,81.25),65.00(60.00,80.00)and 67.39(60.87,78.26)preoperatively and were 93.75(87.50,100.00),90.00(83.33,96.67)and 89.13(85.32,95.65)postoperatively.The preoperative scores of the affected children were significantly lower in all scales than age-matched healthy children(P<0.001).All the postoperative scores were significantly higher than the preoperative scores in affected children and their parents(P<0.001).In the physical functioning evaluation,the preoperative score reported by parents of girls was higher than parents of boys(P=0.041),and the postoperative score of girls was higher than that of boys(P=0.036).CONCLUSION:CEL is associated with significantly worse quality of life in preschool children.Surgical intervention can significantly improve the HRQoL in affected children from both personal and family perspective.展开更多
Background: Congenital heart disease is a public health issue due to its incidence and mortality rate. The aim of this study was to investigate the long-term mortality of children with congenital heart disease admitte...Background: Congenital heart disease is a public health issue due to its incidence and mortality rate. The aim of this study was to investigate the long-term mortality of children with congenital heart disease admitted to the Departmental University Hospital of Borgou/Alibori (CHUD-B/A) from 2011 to 2022. Methods: This descriptive longitudinal study with analytical aims covered 11 years (April 1, 2011 to December 31, 2022). It consisted of a review of the records of children under 15 years of age with echocardiographically confirmed congenital heart disease. This was followed by an interview with the parents to assess the children’s current condition. Data were entered using Kobocollect software and analyzed using R Studio 4.2.2. software. Results: A total of 143 complete files were retained. The median age at diagnosis was 14 months (IIQ: Q1 = 4;Q3 = 60) with a range of 2 days and 175 months, and the sex-ratio (M/F) was 0.96. Left-to-right shunts were the most frequent cardiopathy group (62.9%). Only 35 children (24.5%) benefited from restorative treatment. The mortality rate was 31.5%. Median survival under the maximum bias assumption was 114 months and 216 months under the assumption of minimum bias. Survival was significantly better in children with right-to-left shunts (p = 0.0049) under the assumption of minimum bias. The death risk factors were: age at diagnosis less than 12 months (aHR = 7.58;95% CI = 3.36 - 17.24;p Conclusion: The long-term mortality of congenital heart disease is high and favoured by the absence of restorative treatment. Local correction of congenital heart disease and medical follow-up will help to reduce this mortality.展开更多
Introduction: Congenital heart disease includes all cardiac and vascular malformations. It accounts for approximately one third of all congenital malformations and is a public health problem, particularly in developin...Introduction: Congenital heart disease includes all cardiac and vascular malformations. It accounts for approximately one third of all congenital malformations and is a public health problem, particularly in developing countries. The aim of this study was to analyze the epidemiological, clinical and paraclinical aspects of congenital heart disease. Methods: This was a retrospective descriptive and analytical study based on the records of 135 patients referred for surgery and followed up in the cardiology department of the Ignace Deen University Hospital, collected in November 2022. Results: Hospital prevalence was 5%. The mean age was 71 months, ranging from 1 month to 19 years. The age group over 24 months was the most represented (62%). The M/F sex ratio was 1.36. Urban origin was predominant (58%). The rate of children not attending school or dropping out was high (16%). Siblings with fewer than 4 children were the most common (88%). A heart murmur was the most frequent sign (78%), followed by cyanosis (36%) and heart failure (29%). The association between heart murmurs and CHD was proven with a p-value Conclusion: CHDs represent the main indication for paediatric cardiac surgery and follow-up (95%). We stress the importance of implementing a screening and management strategy for congenital heart disease.展开更多
●AIM:To establish a classification for congenital cataracts that can facilitate individualized treatment and help identify individuals with a high likelihood of different visual outcomes.●METHODS:Consecutive patient...●AIM:To establish a classification for congenital cataracts that can facilitate individualized treatment and help identify individuals with a high likelihood of different visual outcomes.●METHODS:Consecutive patients diagnosed with congenital cataracts and undergoing surgery between January 2005 and November 2021 were recruited.Data on visual outcomes and the phenotypic characteristics of ocular biometry and the anterior and posterior segments were extracted from the patients’medical records.A hierarchical cluster analysis was performed.The main outcome measure was the identification of distinct clusters of eyes with congenital cataracts.●RESULTS:A total of 164 children(299 eyes)were divided into two clusters based on their ocular features.Cluster 1(96 eyes)had a shorter axial length(mean±SD,19.44±1.68 mm),a low prevalence of macular abnormalities(1.04%),and no retinal abnormalities or posterior cataracts.Cluster 2(203 eyes)had a greater axial length(mean±SD,20.42±2.10 mm)and a higher prevalence of macular abnormalities(8.37%),retinal abnormalities(98.52%),and posterior cataracts(4.93%).Compared with the eyes in Cluster 2(57.14%),those in Cluster 1(71.88%)had a 2.2 times higher chance of good best-corrected visual acuity[<0.7 logMAR;OR(95%CI),2.20(1.25–3.81);P=0.006].●CONCLUSION:This retrospective study categorizes congenital cataracts into two distinct clusters,each associated with a different likelihood of visual outcomes.This innovative classification may enable the personalization and prioritization of early interventions for patients who may gain the greatest benefit,thereby making strides toward precision medicine in the field of congenital cataracts.展开更多
AIM:To analyze the changes in scientific output relating to Leber congenital amaurosis(LCA)and forecast the study trends in this field.METHODS:All of the publications in the field of LCA from 2002 to 2022 were collect...AIM:To analyze the changes in scientific output relating to Leber congenital amaurosis(LCA)and forecast the study trends in this field.METHODS:All of the publications in the field of LCA from 2002 to 2022 were collected from Web of Science(WOS)database.We analyzed the quantity(number of publications),quality(citation and H-index)and development trends(relative research interest,RRI)of published LCA research over the last two decades.Moreover,VOSviewer software was applied to define the co-occurrence network of keywords in this field.RESULTS:A total of 2158 publications were ultimately examined.We found that the focus on LCA kept rising and peaked in 2015 and 2018,which is consistent with the development trend of gene therapy.The USA has contributed most to this field with 1162 publications,56674 citations and the highest H-index value(116).The keywords analysis was divided into five clusters to show the hotspots in the field of LCA,namely mechanism-related,genotype-related,local phenotype-related,system phenotype-related,and therapy-related.We also identified gene therapy and antiretinal degeneration therapy as a major focus in recent years.CONCLUSION:Our study illustrates historical research process and future development trends in LCA field.This may help to guide the orientation for further clinical diagnosis,treatment and scientific research.展开更多
Congenital radio-ulnar synostosis (CRUS) is a rare skeletal malformation of the upper limb and the most common congenital functional disorder of the elbow joint, causing limitation in forearm rotational movements, whi...Congenital radio-ulnar synostosis (CRUS) is a rare skeletal malformation of the upper limb and the most common congenital functional disorder of the elbow joint, causing limitation in forearm rotational movements, which may lead to difficulties with some activities of daily living. We reported a 4-year-old girl with congenital bilateral proximal radio-ulnar synostosis who presented with functional discomfort due to limitation of the prono-supination movements of the forearms and abnormal gestures when handling objects. She has clinical and radiological features of congenital radio-ulnar synostosis (CRUS). However, the parents declined corrective surgery because of wrong perception of the condition to be normal. This case highlighted the poor health seeking behavior and wrong illness perception prevalent in the developing countries.展开更多
Background: Congenital Mesoblastic Nephroma (CMN) is a mesenchymal renal tumour of early life. With a median diagnosis of two months and over 90% of cases occurring within the first year of life, it is the most preval...Background: Congenital Mesoblastic Nephroma (CMN) is a mesenchymal renal tumour of early life. With a median diagnosis of two months and over 90% of cases occurring within the first year of life, it is the most prevalent non-Wilms’ renal tumour. Even though imaging can be used as a diagnosing tool, it is frequently identified in the neonatal period when the baby has an abdominal mass. There are three different histologic types: mixed, cellular, and classic. Radical nephrectomy is the usual mode of treatment, though adjuvant chemotherapy may be necessary for the cellular type, which may be aggressive. Case presentation: We report on a case of a 2-day-old term male neonate born to a 27-year-old mother through spontaneous vertex delivery (SVD). He presented with a right-sided abdominal mass from birth. An abdominal ultrasound scan revealed a huge, well-circumscribed heterogeneous soft tissue mass in the right hemi-abdomen extending to the left side, measuring 10.2 cm by 8.0 cm. He underwent a right radical nephrectomy with a tumour weight of 450 g and a size of 18 cm × 15 cm × 6 cm. Histopathological diagnosis was Congenital Mesoblastic Nephroma (cellular type) Stage 1. Conclusion: Any infant with a renal tumour should be evaluated for congenital mesoblastic nephroma. Detailed investigation and complete resection are fundamental for ensuring an excellent outcome.展开更多
Toxoplasmosis is a parasitic infection caused by Toxoplasma gondii, which is transmitted by contact with animals carrying the parasite, or by eating contaminated food such as undercooked meat or raw fruit and vegetabl...Toxoplasmosis is a parasitic infection caused by Toxoplasma gondii, which is transmitted by contact with animals carrying the parasite, or by eating contaminated food such as undercooked meat or raw fruit and vegetables. Toxoplasmosis is often benign, but can be serious in pregnant women. In order to assess the prevalence of congenital toxoplasmosis in Brazzaville, Republic of Congo, 464 women aged between 16 and 42 were surveyed in 3 health facilities, including one public hospital (Blanche Gomez) and two private medical centers (OCH medical and ultrasound practice and Luiz laboratory). A total of 1868 samples were taken and analyzed using the ELFA method on mini vidas, an enzyme-linked immunosorbent assay for fluorescence detection. The results showed that out of 1392 samples obtained from 464 pregnant women, 693 samples from 231 pregnant women were positive, i.e. a frequency of 49.78%. Analysis of the immunological profile showed 48.70% IgG and 1.07% IgG associated with IgM. The different frequencies varied from one health facility to another: 53.96% at Blanche Gomez Hospital, 53.76% at Luiz Laboratory and 31% at OCH. Seroprevalence by age group showed 57.14% in pregnant women aged 16 to 25, 52.77% in pregnant women aged 26 to 35 and 21.62% in pregnant women aged 36 to 42. A frequency of 52.65% was observed in pregnant women in contact with soil and 49.78% in pregnant women consuming vegetables, while 66.66% of women in contact with cats were positive for toxoplasmosis. IgG avidity assays showed a frequency of 74% for high avidity and 3.75% for low avidity. This study enabled us to diagnose 9 cases of seroconversion, including 6 cases of congenital toxoplasmosis. Among the 6 cases, 4 children showed toxoplasmosis with sub-clinical signs of IgG persistence at one year of age, including one with thrombocytopenia associated with jaundice and 2 others with hepatomegaly associated with hypertransaminase and hyperbilirubinemia. The maternal-fetal transmission rate was 66.66%, with an incidence of congenital toxoplasmosis of 1.29 per 464 births.In conclusion, the results of this study show the impact of toxoplasmosis on public health, and demonstrate the importance of quarterly pregnancy monitoring and compliance with hygienic and dietary measures, which are very important for prevention, early detection and management of contaminated pregnant women during prenatal monitoring, thereby reducing the consequences for newborns.展开更多
Background:Patients with congenital heart disease(CHD)will transition to lifelong adult congenital cardiac care.However,their structural heart disease is challenging to convey via two-dimensional drawings.This study u...Background:Patients with congenital heart disease(CHD)will transition to lifelong adult congenital cardiac care.However,their structural heart disease is challenging to convey via two-dimensional drawings.This study utilized a tele-educational environment,with personalized three-dimensional(3D)modeling and health Details(3D+Details=“4D”),to improve actual and perceived knowledge,both important components of transition readiness in CHD patients.Methods:Participants aged≥13 years with a history of CHD and cardiac magnetic resonance imaging(MRI)studies were eligible.Cardiac MRI datasets were then used to segment and create 3D heart models(using Mimics,Materialize Inc.).Participantsfirst completed the MyHeart Questionnaire,a validated survey of actual knowledge.A tele-educational session was then scheduled,during which participants were shown a 3D model of a normal heart,followed by their personal 3D heart model and specific health details.Participants then repeated the actual knowledge survey,in addition to questionnaires assessing perceived knowledge pre-and post-session,as well as a satisfaction survey.Results:Twenty-two patients were included.Actual knowledge increased from 75%±15%to 89%±20%(p=0.00043)and perceived knowledge increased infive of seven questions.Actual knowledge correlated with perceived knowledge(r=0.608,p<0.0001).Ninety-one percent of participants ranked the 3D model as“very satisfactory”and ninety-five percent ranked the educational session as“very help-ful”or“extremely helpful.”Conclusions:The use of“4D”tele-education increased both actual and perceived knowledge and may help improve transition readiness in CHD patients.展开更多
AIM:To identify genetic defects in a Chinese family with congenital posterior polar cataracts and assess the pathogenicity.METHODS:A four-generation Chinese family affected with autosomal dominant congenital cataract ...AIM:To identify genetic defects in a Chinese family with congenital posterior polar cataracts and assess the pathogenicity.METHODS:A four-generation Chinese family affected with autosomal dominant congenital cataract was recruited.Nineteen individuals took part in this study including 5 affected and 14 unaffected individuals.Sanger sequencing targeted hot-spot regions of 27 congenital cataract-causing genes for variant discovery.The pathogenicity of the variant was evaluated by the guidelines of American College of Medical Genetics and InterVar software.Confocal microscopy was applied to detect the subcellular localization of fluorescence-labeled ephrin type-A receptor 2(EPHA2).Co-immunoprecipitation assay was implemented to estimate the interaction between EphA2 and other lens membrane proteins.The mRNA and protein expression were analyzed by reverse transcription-polymerase chain reaction(qRT-PCR)and Western blotting assay,respectively.The cell migration was analyzed by wound healing assay.Zebrafish model was generated by ectopic expression of human EPHA2/p.R957P mutant to demonstrate whether the mutant could cause lens opacity in vivo.RESULTS:A novel missense and pathogenic variant c.2870G>C was identified in the sterile alpha motif(SAM)domain of EPHA2.Functional studies demonstrated the variant’s impact:reduced EPHA2 protein expression,altered subcellular localization,and disrupted interactions with other lens membrane proteins.This mutant notably enhanced human lens epithelial cell migration,and induced a central cloudy region and roughness in zebrafish lenses with ectopic expression of human EPHA2/p.R957P mutant under differential interference contrast(DIC)optics.CONCLUSION:Novel pathogenic c.2870G>C variant of EPHA2 in a Chinese congenital cataract family contributes to disease pathogenesis.展开更多
Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The ima...Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The imaging characteristics of this tumor are not specific. Biopsy allows diagnosis;the histomorphological characteristics of rhabdoid tumors, their immunoreactivity to epithelial markers and vimentin, and the INI-1 loss are important tools for diagnosis. RT tumors are aggressive and have a rapidly fatal clinical course in most cases. Despite multidisciplinary therapy, the survival rate is very low. We report a rare case occurring in a male neonate who presents at birth with a voluminous right axillary mass. A CT scan showed a well-limited tumor mass with lobulated contours. An ultrasound-guided biopsy was performed on day 8, showing the morphology and immunoprofile of RT. The mass showed rapid growth. The child was admitted for respiratory distress at 3 weeks. A thoraco-abdominal CT showed an increase in the size of the mass with the appearance of multiple lymph nodes and pleural, hepatic, and renal metastases. The child died two days later.展开更多
Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, ...Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, justifying the present report. Case Report: We reported the cases of 3 female patients, diagnosed with hypothyroidism, presenting in addition pulmonary stenosis. The diagnosis was late in all the patients and we noticed clinical improvement under levothyroxine. Conclusion: Association congenital hypothyroidism and cardiac defect is not rare. Our patients are female with no history of consanguinity, presenting congenital hypothyroidism with a gland in situ associated with pulmonary stenosis. Systematic screening of other births defects is thus recommended in affected patients.展开更多
●AIM:To identify disease-causative mutations in families with congenital cataract.●METHODS:Two Chinese families with autosomaldominant congenital cataract(ADCC)were recruited and underwent comprehensive eye examinat...●AIM:To identify disease-causative mutations in families with congenital cataract.●METHODS:Two Chinese families with autosomaldominant congenital cataract(ADCC)were recruited and underwent comprehensive eye examinations.Gene panel next-generation sequencing of common pathogenic genes of congenital cataract was performed in the proband of each family.Sanger sequencing was used to valid the candidate gene mutations and sequence the other family members for co-segregation analysis.The effect of sequence changes on protein structure and function was predicted through bioinformatics analysis.Major intrinsic protein(MIP)-wildtype and MIP-G29R plasmids were constructed and microinjected into zebrafish single-cell stage embryos.Zebrafish embryonic lens phenotypes were screened using confocal microscopy.●RESULTS:A novel heterozygous mutation(c.85G>A;p.G29R)in the MIP gene was identified in the proband of one family.A known heterozygous mutation(c.97C>T;p.R33C;rs864309693)in MIP was found in the proband of another family.In-silico prediction indicated that the novel mutation might affect the MIP protein function.Zebrafish embryonic lens was uniformly transparent in both wild-type PCS2+MIP and mutant PCS2+MIP.●CONCLUSION:Two missense mutations in the MIP gene in Chinese cataract families are identified,and one of which is novel.These findings expand the genetic spectrum of MIP mutations associated with cataracts.The functional studies suggest that the novel MIP mutation might not be a gain-of-function but a loss-of-function mutation.展开更多
Congenital melanocytic nevi(CMN) are common skin tumors. Large and specially located nevi cannot be completely removed by surgery, posing the risks of both cosmetic deformities and potential malignancy.Nonsurgical tre...Congenital melanocytic nevi(CMN) are common skin tumors. Large and specially located nevi cannot be completely removed by surgery, posing the risks of both cosmetic deformities and potential malignancy.Nonsurgical treatments, such as laser therapy and physical dermabrasion, can overcome the limitations of surgery;however, the high rate of repigmentation remains an unresolved global challenge. We conducted a self-controlled observational study of a patient with a nevus on the chest. Two areas of the lesion were treated with an Er:YAG laser and 5% imiquimod cream was applied to one of these areas. After nearly 7-months of follow-up, we observed a significant difference in color between the two areas, suggesting that topical imiquimod may inhibit repigmentation and significantly enhance the effectiveness of laser treatment.展开更多
Background:Transcatheter closure(TCC)has emerged as the preferred treatment for selected congenital heart disease(CHD).While TCC offers benefits for patients with postoperative residual shunts,understanding its mid-an...Background:Transcatheter closure(TCC)has emerged as the preferred treatment for selected congenital heart disease(CHD).While TCC offers benefits for patients with postoperative residual shunts,understanding its mid-and long-term efficacy and safety remains crucial.Objective:This study aims to assess the mid-and long-term safety and efficacy of TCC for patients with residual atrial or ventricular septal shunts following CHD correction.Methods:In this consecutive retrospective study,we enrolled 35 patients with residual shunt who underwent TCC or surgical repair of CHD between June 2011 to October 2022.TCC candidacy was determined based on established criteria.Echocardiography and electrocardiogram were conducted during the perioperative period and continued as part of long-term follow-up.Results:Among the patients,5(14.3%)exhibited interatrial shunt-ing,while 30(85.7%)had interventricular shunting.TCC was successfully implemented in 33 of 35 patients,with exceptions in two cases of post-ventricular septal defect repair due to anatomical challenges involving the shape and aortic angulation.This resulted in a TCC success rate of 94.3%.Trace residual shunt was detected in two interventricular shunting cases and a mild residual shunt in one interventricular shunting case;all resolved by the three-month follow-up after TCC.Minor complications included one hematoma at the puncture site and one transient junctional rhythm during the perioperative period.During a median follow-up of 73 months,there were no instances of residual shunt,device embolization,occluder displacement,valve insufficiency,malignant arrhythmia,infective endocarditis,death,or other serious complications.Conclusion:TCC is an effective and safe therapy for patients with residual atrial or ventricular septal shunts following CHD correction.Thesefindings support the consideration of TCC as the preferred treatment option for appropriate patient populations.展开更多
Background:Failure to rescue has been an effective quality metric in congenital heart surgery.Conversely,mor-bidity and mortality depend greatly on non-modifiable individual factors and have a weak correlation with be...Background:Failure to rescue has been an effective quality metric in congenital heart surgery.Conversely,mor-bidity and mortality depend greatly on non-modifiable individual factors and have a weak correlation with better-quality performance.We aim to measure the complications,mortality,and risk factors in pediatric patients undergoing congenital heart surgery in a high-complexity institution located in a middle-income country and compare it with other institutions that have conducted a similar study.Methods:A retrospective observational study was conducted in a high-complexity service provider institution,in Cali,Colombia.All pediatric patients undergoing any congenital heart surgery between 2019 and 2022 were included.The main outcomes evaluated in the study were complication,mortality,and failure to rescue rate.Univariate and multivariate logistic regression analysis was performed with mortality as the outcome variable.Results:We evaluated 308 congenital heart sur-geries.Regarding the outcomes,201(65%)complications occurred,23(7.5%)patients died,and the FTR of the entire cohort was 11.4%.The presence of a postoperative complication(OR 14.88,CI 3.06–268.37,p=0.009),age(OR 0.79,CI 0.57–0.96,p=0.068),and urgent/emergent surgery(OR 8.14,CI 2.97–28.66,p<0.001)were the most significant variables in predicting mortality.Conclusions:Failure to rescue is an effective and comparable quality measure in healthcare institutions and is the major contributor to postoperative mortality in congenital heart surgeries.Despite our higher mortality and complication rate,we obtained a comparable failure to rescue rate to high-income countries’health institutions.展开更多
Aims:Multiple genes and environmental factors are known to be involved in congenital heart disease(CHD),but epigenetic variation has received little attention.Monozygotic(MZ)twins with CHD provide a unique model for e...Aims:Multiple genes and environmental factors are known to be involved in congenital heart disease(CHD),but epigenetic variation has received little attention.Monozygotic(MZ)twins with CHD provide a unique model for exploring this phenomenon.In order to investigate the potential role of Deoxyribonucleic Acid(DNA)methyla-tion in CHD pathogenesis,the present study examined DNA methylation variation in MZ twins discordant for CHD,especially ventricular septal defect(VSD).Methods and Results:Using genome-wide DNA methylation profiles,we identified 4004 differentially methylated regions(DMRs)in 18 MZ twin pairs discordant for CHD,and 2826 genes were identified.Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)analysis revealed a list of CHD-associated pathways.To further investigate the role of DNA methylation in VSD,data from 7 pairs of MZ twins with VSD were analyzed.We identified 1614 DMRs corresponding to 1443 genes associated with arrhythmogenic right ventricular cardiomyopathy,cyclic guanosine monopho-sphate-protein kinase G(cGMP-PKG)signaling pathway by KEGG analysis,and cell-cell adhesion,calcium ion transmembrane transport by GO analysis.A proportion of DMR-associated genes were involved in calcium signaling pathways.The methylation changes of calcium signaling genes might be related to VSD pathogenesis.Conclusion:CHD is associated with differential DNA methylation in MZ twins.CHD may be etiologically linked to DNA methylation,and methylation of calcium signaling genes may be involved in the development of VSD.展开更多
Congenital eversion of the upper eyelids is a rare condition, the exact cause of which remains unknown. It is more frequently associated with Down’s syndrome and black babies. If diagnosed early and treated properly,...Congenital eversion of the upper eyelids is a rare condition, the exact cause of which remains unknown. It is more frequently associated with Down’s syndrome and black babies. If diagnosed early and treated properly, the condition can be managed without surgery. We report a case of non syndromic congenital bilateral severe upper eyelid eversion in otherwise normal 3 days old neonate of African descent (Tanzanian), born by vaginal delivery. The case was conservatively managed by lubricants, antibiotics and eyelid patching. We report this case because from the best of our knowledge it has never been documented here at our hospital and Tanzania before.展开更多
基金Supported by Startup Fund for Scientific Research,Fujian Province Science and Technology Innovation Joint Fund Project,No.2021Y9188.
文摘BACKGROUND Morgagni hernias are rare anomalies that are easily misdiagnosed or missed.AIM To summarize the ultrasound(US)imaging characteristics of Morgagni hernias through a comparison of imaging and surgical results.METHODS The records of children with Morgagni hernias who were hospitalized at two hospitals between January 2013 and November 2023 were retrospectively re-viewed in terms of clinical findings,US features,and operative details.RESULTS Between 2013 and 2023,we observed nine(five male and four female)children with Morgagni hernias.Upper abdominal scanning revealed a widening of the prehepatic space,with an abnormal channel extending from the xiphoid process to the right or left side of the thoracic cavity.The channel had intestinal duct and intestinal gas echoes.Hernia contents were found in the transverse colon(n=6),the colon and small intestine(n=2),and the colon and stomach(n=1).Among the patients,seven had a right-sided lesion,two had a left-sided lesion,and all of them had hernial sacs.CONCLUSION US imaging can accurately determine the location,extent,and content of Morgagni hernias.For suspected Mor-gagni hernias,we recommend performing sonographic screening first.
文摘Congenital hernia of the diaphragmatic dome (CHDD) is an embryonic malformation in which all or part of the diaphragmatic dome fails to develop properly. In the majority of cases (80% to 90%), this malformation affects the left posterolateral part of the diaphragm, while in 10% to 15% of cases it affects the right. Bilateral cases are extremely rare, accounting for less than 1% of cases. This malformation is estimated to occur at a frequency of around 1 in 3500 births, with a male predominance. The diaphragmatic defect causes the abdominal organs to rise into the thoracic cavity during critical phases of lung development. These anomalies result in bilateral pulmonary hypoplasia, a reduced number of pulmonary vessels, and pulmonary arterial hypertension (PAH). The combination of these anatomical and functional anomalies, in varying degrees, explains the wide variability of symptoms at birth. Diagnosis is usually made prenatally by ultrasound, which enables severe forms of the disease to be detected and appropriate management initiated. The prognosis remains generally grave, with a neonatal mortality rate of between 30% and 60% depending on the study, and around half of all children will have long-term sequelae.
基金Supported by the National Natural Science Foundation of China(No.81873673)the Basic and Applied Basic Research Foundation of Guangdong Province(No.2021A1515011673).
文摘AIM:To evaluate the effect of lens surgery on health-related quality of life(HRQoL)of preschool children with congenital ectopia lentis(CEL).METHODS:A prospective self-controlled study was conducted in Zhongshan Ophthalmic Center.Children aged from 5 to 7y whom were diagnosed with CEL and underwent phacoemulsification with scleral-fixated posterior chamber intraocular lens implantation and their parents were enrolled in this study.All of them completed the child and proxy(parental)PedsQL™4.0 before and after the surgery.Their preoperative scores were compared to their postoperative ones.Subgroup analyses were performed based on gender and preoperative bilateral presenting visual acuity of the children.RESULTS:Thirty-two children with CEL successfully underwent surgery without any complications,among whom 8 had monocular surgery and 24 had binocular surgery.Preoperative and postoperative questionnaires were completed by 32 child-parent pairs.Surgical intervention could significantly improve the vision of affected children(P<0.001).The medians of physical,psychosocial and total health scores self-reported by the children were 68.75(62.50,81.25),65.00(60.00,80.00)and 67.39(60.87,78.26)preoperatively and were 93.75(87.50,100.00),90.00(83.33,96.67)and 89.13(85.32,95.65)postoperatively.The preoperative scores of the affected children were significantly lower in all scales than age-matched healthy children(P<0.001).All the postoperative scores were significantly higher than the preoperative scores in affected children and their parents(P<0.001).In the physical functioning evaluation,the preoperative score reported by parents of girls was higher than parents of boys(P=0.041),and the postoperative score of girls was higher than that of boys(P=0.036).CONCLUSION:CEL is associated with significantly worse quality of life in preschool children.Surgical intervention can significantly improve the HRQoL in affected children from both personal and family perspective.
文摘Background: Congenital heart disease is a public health issue due to its incidence and mortality rate. The aim of this study was to investigate the long-term mortality of children with congenital heart disease admitted to the Departmental University Hospital of Borgou/Alibori (CHUD-B/A) from 2011 to 2022. Methods: This descriptive longitudinal study with analytical aims covered 11 years (April 1, 2011 to December 31, 2022). It consisted of a review of the records of children under 15 years of age with echocardiographically confirmed congenital heart disease. This was followed by an interview with the parents to assess the children’s current condition. Data were entered using Kobocollect software and analyzed using R Studio 4.2.2. software. Results: A total of 143 complete files were retained. The median age at diagnosis was 14 months (IIQ: Q1 = 4;Q3 = 60) with a range of 2 days and 175 months, and the sex-ratio (M/F) was 0.96. Left-to-right shunts were the most frequent cardiopathy group (62.9%). Only 35 children (24.5%) benefited from restorative treatment. The mortality rate was 31.5%. Median survival under the maximum bias assumption was 114 months and 216 months under the assumption of minimum bias. Survival was significantly better in children with right-to-left shunts (p = 0.0049) under the assumption of minimum bias. The death risk factors were: age at diagnosis less than 12 months (aHR = 7.58;95% CI = 3.36 - 17.24;p Conclusion: The long-term mortality of congenital heart disease is high and favoured by the absence of restorative treatment. Local correction of congenital heart disease and medical follow-up will help to reduce this mortality.
文摘Introduction: Congenital heart disease includes all cardiac and vascular malformations. It accounts for approximately one third of all congenital malformations and is a public health problem, particularly in developing countries. The aim of this study was to analyze the epidemiological, clinical and paraclinical aspects of congenital heart disease. Methods: This was a retrospective descriptive and analytical study based on the records of 135 patients referred for surgery and followed up in the cardiology department of the Ignace Deen University Hospital, collected in November 2022. Results: Hospital prevalence was 5%. The mean age was 71 months, ranging from 1 month to 19 years. The age group over 24 months was the most represented (62%). The M/F sex ratio was 1.36. Urban origin was predominant (58%). The rate of children not attending school or dropping out was high (16%). Siblings with fewer than 4 children were the most common (88%). A heart murmur was the most frequent sign (78%), followed by cyanosis (36%) and heart failure (29%). The association between heart murmurs and CHD was proven with a p-value Conclusion: CHDs represent the main indication for paediatric cardiac surgery and follow-up (95%). We stress the importance of implementing a screening and management strategy for congenital heart disease.
基金Supported by the Municipal Government and School(Hospital)Joint Funding Programme of Guangzhou(No.2023A03J0174,No.2023A03J0188)the State Key Laboratories’Youth Program of China(No.83000-32030003).
文摘●AIM:To establish a classification for congenital cataracts that can facilitate individualized treatment and help identify individuals with a high likelihood of different visual outcomes.●METHODS:Consecutive patients diagnosed with congenital cataracts and undergoing surgery between January 2005 and November 2021 were recruited.Data on visual outcomes and the phenotypic characteristics of ocular biometry and the anterior and posterior segments were extracted from the patients’medical records.A hierarchical cluster analysis was performed.The main outcome measure was the identification of distinct clusters of eyes with congenital cataracts.●RESULTS:A total of 164 children(299 eyes)were divided into two clusters based on their ocular features.Cluster 1(96 eyes)had a shorter axial length(mean±SD,19.44±1.68 mm),a low prevalence of macular abnormalities(1.04%),and no retinal abnormalities or posterior cataracts.Cluster 2(203 eyes)had a greater axial length(mean±SD,20.42±2.10 mm)and a higher prevalence of macular abnormalities(8.37%),retinal abnormalities(98.52%),and posterior cataracts(4.93%).Compared with the eyes in Cluster 2(57.14%),those in Cluster 1(71.88%)had a 2.2 times higher chance of good best-corrected visual acuity[<0.7 logMAR;OR(95%CI),2.20(1.25–3.81);P=0.006].●CONCLUSION:This retrospective study categorizes congenital cataracts into two distinct clusters,each associated with a different likelihood of visual outcomes.This innovative classification may enable the personalization and prioritization of early interventions for patients who may gain the greatest benefit,thereby making strides toward precision medicine in the field of congenital cataracts.
基金Supported by the National Natural Science Foundation of China (No.82171076,No.82101159)Science and Technology Commission of Shanghai Municipality (No.20Z11900400)+2 种基金Shanghai Hospital Development Center (No.SHDC2020CR2040B,No.SHDC2020CR5014)Shanghai Collaborative Innovation Center for Translational Medicine (No.TM202115PT)Shanghai Sailing Program (No.22YF1435500).
文摘AIM:To analyze the changes in scientific output relating to Leber congenital amaurosis(LCA)and forecast the study trends in this field.METHODS:All of the publications in the field of LCA from 2002 to 2022 were collected from Web of Science(WOS)database.We analyzed the quantity(number of publications),quality(citation and H-index)and development trends(relative research interest,RRI)of published LCA research over the last two decades.Moreover,VOSviewer software was applied to define the co-occurrence network of keywords in this field.RESULTS:A total of 2158 publications were ultimately examined.We found that the focus on LCA kept rising and peaked in 2015 and 2018,which is consistent with the development trend of gene therapy.The USA has contributed most to this field with 1162 publications,56674 citations and the highest H-index value(116).The keywords analysis was divided into five clusters to show the hotspots in the field of LCA,namely mechanism-related,genotype-related,local phenotype-related,system phenotype-related,and therapy-related.We also identified gene therapy and antiretinal degeneration therapy as a major focus in recent years.CONCLUSION:Our study illustrates historical research process and future development trends in LCA field.This may help to guide the orientation for further clinical diagnosis,treatment and scientific research.
文摘Congenital radio-ulnar synostosis (CRUS) is a rare skeletal malformation of the upper limb and the most common congenital functional disorder of the elbow joint, causing limitation in forearm rotational movements, which may lead to difficulties with some activities of daily living. We reported a 4-year-old girl with congenital bilateral proximal radio-ulnar synostosis who presented with functional discomfort due to limitation of the prono-supination movements of the forearms and abnormal gestures when handling objects. She has clinical and radiological features of congenital radio-ulnar synostosis (CRUS). However, the parents declined corrective surgery because of wrong perception of the condition to be normal. This case highlighted the poor health seeking behavior and wrong illness perception prevalent in the developing countries.
文摘Background: Congenital Mesoblastic Nephroma (CMN) is a mesenchymal renal tumour of early life. With a median diagnosis of two months and over 90% of cases occurring within the first year of life, it is the most prevalent non-Wilms’ renal tumour. Even though imaging can be used as a diagnosing tool, it is frequently identified in the neonatal period when the baby has an abdominal mass. There are three different histologic types: mixed, cellular, and classic. Radical nephrectomy is the usual mode of treatment, though adjuvant chemotherapy may be necessary for the cellular type, which may be aggressive. Case presentation: We report on a case of a 2-day-old term male neonate born to a 27-year-old mother through spontaneous vertex delivery (SVD). He presented with a right-sided abdominal mass from birth. An abdominal ultrasound scan revealed a huge, well-circumscribed heterogeneous soft tissue mass in the right hemi-abdomen extending to the left side, measuring 10.2 cm by 8.0 cm. He underwent a right radical nephrectomy with a tumour weight of 450 g and a size of 18 cm × 15 cm × 6 cm. Histopathological diagnosis was Congenital Mesoblastic Nephroma (cellular type) Stage 1. Conclusion: Any infant with a renal tumour should be evaluated for congenital mesoblastic nephroma. Detailed investigation and complete resection are fundamental for ensuring an excellent outcome.
文摘Toxoplasmosis is a parasitic infection caused by Toxoplasma gondii, which is transmitted by contact with animals carrying the parasite, or by eating contaminated food such as undercooked meat or raw fruit and vegetables. Toxoplasmosis is often benign, but can be serious in pregnant women. In order to assess the prevalence of congenital toxoplasmosis in Brazzaville, Republic of Congo, 464 women aged between 16 and 42 were surveyed in 3 health facilities, including one public hospital (Blanche Gomez) and two private medical centers (OCH medical and ultrasound practice and Luiz laboratory). A total of 1868 samples were taken and analyzed using the ELFA method on mini vidas, an enzyme-linked immunosorbent assay for fluorescence detection. The results showed that out of 1392 samples obtained from 464 pregnant women, 693 samples from 231 pregnant women were positive, i.e. a frequency of 49.78%. Analysis of the immunological profile showed 48.70% IgG and 1.07% IgG associated with IgM. The different frequencies varied from one health facility to another: 53.96% at Blanche Gomez Hospital, 53.76% at Luiz Laboratory and 31% at OCH. Seroprevalence by age group showed 57.14% in pregnant women aged 16 to 25, 52.77% in pregnant women aged 26 to 35 and 21.62% in pregnant women aged 36 to 42. A frequency of 52.65% was observed in pregnant women in contact with soil and 49.78% in pregnant women consuming vegetables, while 66.66% of women in contact with cats were positive for toxoplasmosis. IgG avidity assays showed a frequency of 74% for high avidity and 3.75% for low avidity. This study enabled us to diagnose 9 cases of seroconversion, including 6 cases of congenital toxoplasmosis. Among the 6 cases, 4 children showed toxoplasmosis with sub-clinical signs of IgG persistence at one year of age, including one with thrombocytopenia associated with jaundice and 2 others with hepatomegaly associated with hypertransaminase and hyperbilirubinemia. The maternal-fetal transmission rate was 66.66%, with an incidence of congenital toxoplasmosis of 1.29 per 464 births.In conclusion, the results of this study show the impact of toxoplasmosis on public health, and demonstrate the importance of quarterly pregnancy monitoring and compliance with hygienic and dietary measures, which are very important for prevention, early detection and management of contaminated pregnant women during prenatal monitoring, thereby reducing the consequences for newborns.
文摘Background:Patients with congenital heart disease(CHD)will transition to lifelong adult congenital cardiac care.However,their structural heart disease is challenging to convey via two-dimensional drawings.This study utilized a tele-educational environment,with personalized three-dimensional(3D)modeling and health Details(3D+Details=“4D”),to improve actual and perceived knowledge,both important components of transition readiness in CHD patients.Methods:Participants aged≥13 years with a history of CHD and cardiac magnetic resonance imaging(MRI)studies were eligible.Cardiac MRI datasets were then used to segment and create 3D heart models(using Mimics,Materialize Inc.).Participantsfirst completed the MyHeart Questionnaire,a validated survey of actual knowledge.A tele-educational session was then scheduled,during which participants were shown a 3D model of a normal heart,followed by their personal 3D heart model and specific health details.Participants then repeated the actual knowledge survey,in addition to questionnaires assessing perceived knowledge pre-and post-session,as well as a satisfaction survey.Results:Twenty-two patients were included.Actual knowledge increased from 75%±15%to 89%±20%(p=0.00043)and perceived knowledge increased infive of seven questions.Actual knowledge correlated with perceived knowledge(r=0.608,p<0.0001).Ninety-one percent of participants ranked the 3D model as“very satisfactory”and ninety-five percent ranked the educational session as“very help-ful”or“extremely helpful.”Conclusions:The use of“4D”tele-education increased both actual and perceived knowledge and may help improve transition readiness in CHD patients.
基金Supported by the Natural Science Foundation of Fujian Province(No.2021J01229)National Key Research and Development Program of China(No.2016YFC1000307).
文摘AIM:To identify genetic defects in a Chinese family with congenital posterior polar cataracts and assess the pathogenicity.METHODS:A four-generation Chinese family affected with autosomal dominant congenital cataract was recruited.Nineteen individuals took part in this study including 5 affected and 14 unaffected individuals.Sanger sequencing targeted hot-spot regions of 27 congenital cataract-causing genes for variant discovery.The pathogenicity of the variant was evaluated by the guidelines of American College of Medical Genetics and InterVar software.Confocal microscopy was applied to detect the subcellular localization of fluorescence-labeled ephrin type-A receptor 2(EPHA2).Co-immunoprecipitation assay was implemented to estimate the interaction between EphA2 and other lens membrane proteins.The mRNA and protein expression were analyzed by reverse transcription-polymerase chain reaction(qRT-PCR)and Western blotting assay,respectively.The cell migration was analyzed by wound healing assay.Zebrafish model was generated by ectopic expression of human EPHA2/p.R957P mutant to demonstrate whether the mutant could cause lens opacity in vivo.RESULTS:A novel missense and pathogenic variant c.2870G>C was identified in the sterile alpha motif(SAM)domain of EPHA2.Functional studies demonstrated the variant’s impact:reduced EPHA2 protein expression,altered subcellular localization,and disrupted interactions with other lens membrane proteins.This mutant notably enhanced human lens epithelial cell migration,and induced a central cloudy region and roughness in zebrafish lenses with ectopic expression of human EPHA2/p.R957P mutant under differential interference contrast(DIC)optics.CONCLUSION:Novel pathogenic c.2870G>C variant of EPHA2 in a Chinese congenital cataract family contributes to disease pathogenesis.
文摘Rhabdoid tumors (RTs) are a well-defined entity in the kidney or central nervous system of infants or children. However, soft-tissue involvement is uncommon. It’s an exceptional neonatal tumor of soft tissue. The imaging characteristics of this tumor are not specific. Biopsy allows diagnosis;the histomorphological characteristics of rhabdoid tumors, their immunoreactivity to epithelial markers and vimentin, and the INI-1 loss are important tools for diagnosis. RT tumors are aggressive and have a rapidly fatal clinical course in most cases. Despite multidisciplinary therapy, the survival rate is very low. We report a rare case occurring in a male neonate who presents at birth with a voluminous right axillary mass. A CT scan showed a well-limited tumor mass with lobulated contours. An ultrasound-guided biopsy was performed on day 8, showing the morphology and immunoprofile of RT. The mass showed rapid growth. The child was admitted for respiratory distress at 3 weeks. A thoraco-abdominal CT showed an increase in the size of the mass with the appearance of multiple lymph nodes and pleural, hepatic, and renal metastases. The child died two days later.
文摘Introduction: Congenital hypothyroidism is the most common causes of preventable mental retardation. It is associated with other births defects like cardiac malformations. Descriptions in Sub Saharan Africa are rare, justifying the present report. Case Report: We reported the cases of 3 female patients, diagnosed with hypothyroidism, presenting in addition pulmonary stenosis. The diagnosis was late in all the patients and we noticed clinical improvement under levothyroxine. Conclusion: Association congenital hypothyroidism and cardiac defect is not rare. Our patients are female with no history of consanguinity, presenting congenital hypothyroidism with a gland in situ associated with pulmonary stenosis. Systematic screening of other births defects is thus recommended in affected patients.
基金Supported by the Science,Technology and Innovation Commission of Shenzhen Municipality(No.GJHZ20220913142618036,No.JCYJ20210324113610029).
文摘●AIM:To identify disease-causative mutations in families with congenital cataract.●METHODS:Two Chinese families with autosomaldominant congenital cataract(ADCC)were recruited and underwent comprehensive eye examinations.Gene panel next-generation sequencing of common pathogenic genes of congenital cataract was performed in the proband of each family.Sanger sequencing was used to valid the candidate gene mutations and sequence the other family members for co-segregation analysis.The effect of sequence changes on protein structure and function was predicted through bioinformatics analysis.Major intrinsic protein(MIP)-wildtype and MIP-G29R plasmids were constructed and microinjected into zebrafish single-cell stage embryos.Zebrafish embryonic lens phenotypes were screened using confocal microscopy.●RESULTS:A novel heterozygous mutation(c.85G>A;p.G29R)in the MIP gene was identified in the proband of one family.A known heterozygous mutation(c.97C>T;p.R33C;rs864309693)in MIP was found in the proband of another family.In-silico prediction indicated that the novel mutation might affect the MIP protein function.Zebrafish embryonic lens was uniformly transparent in both wild-type PCS2+MIP and mutant PCS2+MIP.●CONCLUSION:Two missense mutations in the MIP gene in Chinese cataract families are identified,and one of which is novel.These findings expand the genetic spectrum of MIP mutations associated with cataracts.The functional studies suggest that the novel MIP mutation might not be a gain-of-function but a loss-of-function mutation.
基金supported by Shanghai Municipal Key Clinical Specialty (grant no. shslczdzk00901)Clinical Research Project of Multi-Disciplinary Team, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine
文摘Congenital melanocytic nevi(CMN) are common skin tumors. Large and specially located nevi cannot be completely removed by surgery, posing the risks of both cosmetic deformities and potential malignancy.Nonsurgical treatments, such as laser therapy and physical dermabrasion, can overcome the limitations of surgery;however, the high rate of repigmentation remains an unresolved global challenge. We conducted a self-controlled observational study of a patient with a nevus on the chest. Two areas of the lesion were treated with an Er:YAG laser and 5% imiquimod cream was applied to one of these areas. After nearly 7-months of follow-up, we observed a significant difference in color between the two areas, suggesting that topical imiquimod may inhibit repigmentation and significantly enhance the effectiveness of laser treatment.
文摘Background:Transcatheter closure(TCC)has emerged as the preferred treatment for selected congenital heart disease(CHD).While TCC offers benefits for patients with postoperative residual shunts,understanding its mid-and long-term efficacy and safety remains crucial.Objective:This study aims to assess the mid-and long-term safety and efficacy of TCC for patients with residual atrial or ventricular septal shunts following CHD correction.Methods:In this consecutive retrospective study,we enrolled 35 patients with residual shunt who underwent TCC or surgical repair of CHD between June 2011 to October 2022.TCC candidacy was determined based on established criteria.Echocardiography and electrocardiogram were conducted during the perioperative period and continued as part of long-term follow-up.Results:Among the patients,5(14.3%)exhibited interatrial shunt-ing,while 30(85.7%)had interventricular shunting.TCC was successfully implemented in 33 of 35 patients,with exceptions in two cases of post-ventricular septal defect repair due to anatomical challenges involving the shape and aortic angulation.This resulted in a TCC success rate of 94.3%.Trace residual shunt was detected in two interventricular shunting cases and a mild residual shunt in one interventricular shunting case;all resolved by the three-month follow-up after TCC.Minor complications included one hematoma at the puncture site and one transient junctional rhythm during the perioperative period.During a median follow-up of 73 months,there were no instances of residual shunt,device embolization,occluder displacement,valve insufficiency,malignant arrhythmia,infective endocarditis,death,or other serious complications.Conclusion:TCC is an effective and safe therapy for patients with residual atrial or ventricular septal shunts following CHD correction.Thesefindings support the consideration of TCC as the preferred treatment option for appropriate patient populations.
基金approved by the Institutional Ethics Committee(approval number 628-2022 Act No.I22-112 of November 02,2022)following national and international recommendations for human research.In。
文摘Background:Failure to rescue has been an effective quality metric in congenital heart surgery.Conversely,mor-bidity and mortality depend greatly on non-modifiable individual factors and have a weak correlation with better-quality performance.We aim to measure the complications,mortality,and risk factors in pediatric patients undergoing congenital heart surgery in a high-complexity institution located in a middle-income country and compare it with other institutions that have conducted a similar study.Methods:A retrospective observational study was conducted in a high-complexity service provider institution,in Cali,Colombia.All pediatric patients undergoing any congenital heart surgery between 2019 and 2022 were included.The main outcomes evaluated in the study were complication,mortality,and failure to rescue rate.Univariate and multivariate logistic regression analysis was performed with mortality as the outcome variable.Results:We evaluated 308 congenital heart sur-geries.Regarding the outcomes,201(65%)complications occurred,23(7.5%)patients died,and the FTR of the entire cohort was 11.4%.The presence of a postoperative complication(OR 14.88,CI 3.06–268.37,p=0.009),age(OR 0.79,CI 0.57–0.96,p=0.068),and urgent/emergent surgery(OR 8.14,CI 2.97–28.66,p<0.001)were the most significant variables in predicting mortality.Conclusions:Failure to rescue is an effective and comparable quality measure in healthcare institutions and is the major contributor to postoperative mortality in congenital heart surgeries.Despite our higher mortality and complication rate,we obtained a comparable failure to rescue rate to high-income countries’health institutions.
基金China’s National Natural Science Foundation provided funding for this study(81900222)Guangzhou Science and Technology Program(SL2022A04J01269,202201020646)Guangzhou Health Science and Technology Program(20211A010026).
文摘Aims:Multiple genes and environmental factors are known to be involved in congenital heart disease(CHD),but epigenetic variation has received little attention.Monozygotic(MZ)twins with CHD provide a unique model for exploring this phenomenon.In order to investigate the potential role of Deoxyribonucleic Acid(DNA)methyla-tion in CHD pathogenesis,the present study examined DNA methylation variation in MZ twins discordant for CHD,especially ventricular septal defect(VSD).Methods and Results:Using genome-wide DNA methylation profiles,we identified 4004 differentially methylated regions(DMRs)in 18 MZ twin pairs discordant for CHD,and 2826 genes were identified.Gene Ontology(GO)and Kyoto Encyclopedia of Genes and Genomes(KEGG)analysis revealed a list of CHD-associated pathways.To further investigate the role of DNA methylation in VSD,data from 7 pairs of MZ twins with VSD were analyzed.We identified 1614 DMRs corresponding to 1443 genes associated with arrhythmogenic right ventricular cardiomyopathy,cyclic guanosine monopho-sphate-protein kinase G(cGMP-PKG)signaling pathway by KEGG analysis,and cell-cell adhesion,calcium ion transmembrane transport by GO analysis.A proportion of DMR-associated genes were involved in calcium signaling pathways.The methylation changes of calcium signaling genes might be related to VSD pathogenesis.Conclusion:CHD is associated with differential DNA methylation in MZ twins.CHD may be etiologically linked to DNA methylation,and methylation of calcium signaling genes may be involved in the development of VSD.
文摘Congenital eversion of the upper eyelids is a rare condition, the exact cause of which remains unknown. It is more frequently associated with Down’s syndrome and black babies. If diagnosed early and treated properly, the condition can be managed without surgery. We report a case of non syndromic congenital bilateral severe upper eyelid eversion in otherwise normal 3 days old neonate of African descent (Tanzanian), born by vaginal delivery. The case was conservatively managed by lubricants, antibiotics and eyelid patching. We report this case because from the best of our knowledge it has never been documented here at our hospital and Tanzania before.
