Prevalence of amblyopia in congenital blepharoptosis: a systematic review and Meta-analysis

AIM: To conduct a systematic review and Meta-analysis of the published literature to evaluate the pooled prevalence rate of amblyopia in patients with congenital ptosis.METHODS: We searched the PubMed, Embase, the Cochrane Central Register of Controlled Trials, China National Knowledge Infrastructure, Wanfang Data, and Chongqing VIP databases for studies reporting the prevalence of amblyopia in patients with congenital ptosis. The reference lists of relevant studies were scanned. Heterogeneity of effect sizes across studies was tested. We calculated prevalence ratios to compare prevalence estimates for different causes of amblyopia in patients with congenital ptosis, as well as for different geographical regions, year of publication and sample size in subgroup analyses. A systematic review and Meta-analysis were performed.RESULTS: We identified 29 eligible surveys with a total population of 2436. Prevalence rates of amblyopia ranged from 13.8% to 69%. We noted substantial heterogeneity in prevalence estimates for amblyopia in congenital ptosis(Cochran’s χ2 significant at P<0.0001; I2=90%). The pooled prevalence using random-effects models of 29 studies was 32.8%(95%CI: 27.3%-38.4%) in the overall population. Compared to the overall pooled prevalence, amblyopia prevalence was higher in studies in which only subjects with blepharophimosis syndrome were included.CONCLUSION: We confirm that nearly one-third of congenital ptosis patients are suffering from or at risk for amblyopia. Patients with blepharophimosis syndrome are more likely to develop amblyopia. The identificationand management of amblyopia should be integral to the treatment of congenital ptosis.

Comparison of Surgical Efficacy of Levator Muscle Shortening and Modified Levator Aponeurosis Tucking in Treating Minimal and Moderate CongenitalBlepharoptosis

Purpose:.To evaluate the surgical effect of levator muscle shortening and levator aponeurosis tucking in treating minimal and moderate congenital blepharoptosis.Methods:.Clinical data of 28 patients(40 eyes) diagnosed with mide and moderate congenital blepharoptosis at our institution were retrospectively analyzed. Postoperative efficacy was evaluated and statistically compared between these two techniques.Results:.During 14 months follow-up,.16 eyes with ptosis undergoing levator muscle shortening were treated,.3 with undercorrection of ptosis and 1 with overcorrection of ptosis.In patients receiving levator aponeurosis tucking,.16 eyes were cured and 4 with undercorrection of ptosis.Conclusion:.Both levator muscle shortening and levator aponeurosis tucking are safe and efficacious for correcting minimal and moderate congenital blepharoptosis.

Risk factors for congenital nasolacrimal duct obstruction in children under two years of age

·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.

Ultrasound features of congenital cytomegalovirus infection in the first trimester:A case report

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.

Symmetry of upper eyelid after unilateral blepharoptosis repair with minimally invasive conjoint fascial sheath suspension technique

AIM:To investigate the symmetry of upper eyelid in patients with unilateral mild and moderate blepharoptosis who underwent unilateral minimally invasive combined fascia sheath(CFS)suspension.METHODS:A retrospective study of patients who underwent unilateral minimally invasive CFS suspension surgery between January 2018 and December 2021.Inclusion criteria included unilateral mild and moderate ptosis,good levator muscle function(>9 mm)and follow-up of at least 6mo.Pre-and post-operative symmetry was graded subjectively for marginal reflex distance 1(MRD1),tarsal platform show(TPS)and eyebrow fat span(BFS).A t-test was used to evaluate MRD1,TPS and BFS asymmetry by calculating delta values.The Bézier curve tool of the Image J software was used to extract the upper eyelid contours,where the symmetry was measured by the percentage of overlapping curvatures(POC).RESULTS:Totally 105 patients(105 eyelids)were included(mild group,n=84;moderate group,n=21).Postoperatively,all patients increased MRD1 and decreased TPS in the ptotic eye while maintaining unchanged BFS.The asymmetric delta value for MRD1 was measured to be 1.48±0.86 preoperatively,and it decreased to 0.58±0.67 postoperatively in all cases(P=0.0004).In patients with mild ptosis,the asymmetry value of TPS fell significantly from 1.15±0.62 to 0.68±0.38(P=0.0187).The symmetry of the upper eyelid contour increased in all subgroups of patients,with a POC of 59.39%±13.45%preoperatively and POC of 78.29%±13.80%postoperatively.CONCLUSION:Minimally invasive CFS suspension is proved to be an effective means of improving the symmetry of unilateral ptosis in terms of MRD1(all subgroups),POC(all subgroups)and TPS(only mild group),whereas BFS is unaffected.

Publication trends of Leber congenital amaurosis researches:a bibliometric study during 2002-2022

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.

Klippel Trenaunay Syndrome with Angiokeratoma Circumscriptum Naeviforme and Bilateral Congenital Anorchia: A Rare Association

Klippel-Trenaunay syndrome (KTS) is not a common congenital vascular abnormality. A trio of capillary malformation, venous varicosities, and bony or soft-tissue hypertrophy define this syndrome. Significant morbidities associated with this illness include bleeding, deep vein thrombosis, and embolic consequences. Angiokeratoma circumscriptum naeviforme (ACN) is indeed a congenital variant of angiokeratoma that appears as a hyperkeratotic plaque on the lower extremity. Bilateral congenital anorchia (BCA) is the total lack of testicular tissue in a male with a normal phenotype and karyotype. KTS has been linked to ACN. Here we presented an 8-year-old male child who came with a swollen left thigh and the right side of his face with overlying blackish nodules on his left thigh and scrotum. The patient was diagnosed as KTS with angiokeratoma circumscriptum naeviforme and bilateral congenital anorchia based on his history, imaging studies and the typical clinical features of the disease.

Impact of Social Determinants of Health on Self-Perceived Resilience: An Exploratory Study of Two Cohorts of Adults with Congenital Heart Disease

Social determinants of health(SDOH)affect quality of life.We investigated SDOH impacts on self-perceived resilience among people with adult congenital heart disease(ACHD).Secondary analysis of data from two com-plementary studies:a survey study conducted May 2021–June 2022 and a qualitative study conducted June 2020–August 2021.Resilience was assessed through CD-RISC10 score(range 0–40,higher scores reflect greater self-perceived resilience)and interview responses.Sociodemographic and SDOH(education,employment,living situa-tion,monetary stability,financial dependency,area deprivation index)data were collected by healthcare record review and self-report.We used linear regression with robust standard errors to analyze survey data and performed a thematic analysis of interview data.Survey participants(N=127)mean age was 42±14 years;51%were female,87%white.ACHD was moderate(75%)or complex(25%);41%functional class C or D.Resilience(mean 30±7)varied by monetary stability:compared to people with difficulty paying bills,resilience was 15.0 points higher(95%CI:6.9–23.1,p<0.001)for people reporting having enough money and 14.2 points higher(95%CI:5.9–22.4,p=0.001)for those reporting just enough money.Interview participants’(N=25)mean age was 32 years(range 22–44);52%were female,72%white.ACHD was moderate(56%)or complex(44%);76%functional class C or D.Participants discussed factors affecting resilience aligned with each of the major SDOH,prominently,economic stability and healthcare access and quality.Financial stability may be important for supporting self-perceived resi-lience in ACHD.This knowledge can inform the development of resilience interventions for this population.

Loss to Specialized Cardiology Follow-Up in Adults Living with Congenital Heart Disease

Background:Much has been written about the loss to follow-up in the transition between pediatric and adult Congenital Heart Disease(CHD)care centers.Much less is understood about the loss to follow-up(LTF)after a successful transition.This is critical too,as patients lost to specialised care are more likely to experience mor-bidity and premature mortality.Aims:To understand the prevalence and reasons for loss to follow-up(LTF)at a large Australian Adult Congenital Heart Disease(ACHD)centre.Methods:Patients with moderate or highly complex CHD and gaps in care of>3 years(defined as LTF)were identified from a comprehensive ACHD data-base.Structured telephone interviews examined current care and barriers to clinic attendance.Results:Overall,407(22%)of ACHD patients(n=1842)were LTF.The mean age at LTF was 31(SD 11.5)years and 54%were male;311(76%)were uncontactable.Compared to adults seen regularly,lost patients were younger,with a greater socio-economic disadvantage,and had less complex CHD(p<0.05 for all).We interviewed 59 patients(14%).The top 3 responses for care absences were“feeling well”(61%),losing track of time(36%),and not needing fol-low-up care(25%).Conclusions:A large proportion of the ACHD population becomes lost to specialised cardiac care,even after a successful transition.This Australian study reports younger age,moderate complexity defects,and socio-economic disadvantage as predictive of loss to follow-up.This study highlights the need for novel approaches to patient-centered service delivery even beyond the age of transition and resources to maintain patient engagement within the ACHD service.

Effect of lens surgery on health-related quality of life in preschool children with congenital ectopia lentis

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.

Association of Congenital Heart Defects (CHD) with Factors Related to Maternal Health and Pregnancy in Newborns in Puerto Rico

Background:Given the pervasive issues of obesity and diabetes both in Puerto Rico and the broader United States,there is a compelling need to investigate the intricate interplay among body mass index(BMI),pregesta-tional,and gestational maternal diabetes,and their potential impact on the occurrence of congenital heart defects(CHD)during neonatal development.Methods:Using the comprehensive System of Vigilance and Surveillance of Congenital Defects in Puerto Rico,we conducted a focused analysis on neonates diagnosed with CHD between 2016 and 2020.Our assessment encompassed a range of variables,including maternal age,gestational age,BMI,pregestational diabetes,gestational diabetes,hypertension,history of abortion,and presence of preeclampsia.Results:A cohort of 673 patients was included in our study.The average maternal age was 26 years,within a range of 22 to 32 years.The mean gestational age measured 39 weeks,with a median span of 38 to 39 weeks.Of the 673 patients,274(41%)mothers gave birth to neonates diagnosed with CHD.Within this group,22 cases were linked to pre-gestational diabetes,while 202 were not;20 instances were associated with gestational diabetes,compared to 200 without;and 148 cases exhibited an overweight or obese BMI,whereas 126 displayed a normal BMI.Conclusion:We identified a statistically significant correlation between pre-gestational diabetes mellitus and the occurrence of CHD.However,our analysis did not show a statistically significant association between maternal BMI and the likelihood of CHD.These results may aid in developing effective strategies to prevent and manage CHD in neonates.

Long-Term Mortality of Children with Congenital Heart Disease Admitted to the Departmental University Hospital of Borgou/Alibori from 2011 to 2022

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.

Adults with Congenital Heart Disease during the COVID-19 Era:One-Year Tertiary Center Experience

Background:Adult patients with congenital heart disease(ACHD)might be at high risk of Coronavirus disease-2019(COVID-19).This study aimed to report on a one-year tertiary center experience regards COVID-19 infection in ACHD patients.Methods:This is a one-year(March-2020 to March-2021)tertiary-center retrospective study that enrolled all ACHD patients;COVID-19 positive patients’medical records,and management were reported.Results:We recorded 542 patients,205(37.8%)COVID-19-positive,and 337(62.2%)COVID-19-negative patients.Palliated single ventricle and Eisenmenger syndrome patients were more vulnerable to COVID-19 infection(P<0.05*).Cardiovascular COVID-19 complications were arrhythmias in 47(22.9%)patients,heart failure in 39(19.0%)patients,cyanosis in 12(5.9%)patients,stroke/TIA in 5(2.4%)patients,hypertension and infective endocarditis in 2(1.0%)patients for each,pulmonary hypertension and pulmonary embolism in 1(0.5%)patient for each.11(5.4%)patients were managed with home isolation,147(71.7%)patients required antibiotics,32(15.6%)patients required intensive care unit(ICU),8(3.9%)patients required inotropes,7(3.4%)patients required mechanical ventilation,and 2(1.0%)patients required extracorporeal membrane oxygenation(ECMO).Thromboprophylaxis was given to all 46(22.4%)hospitalized patients.American College of Cardiology/American Heart Association classification revealed that complex lesions,and FC-C/D categories were more likely to develop severe/critical symptoms,that required mechanical ventilation and ECMO(P<0.05*).Mortality was reported in 3(0.6%)patients with no difference between groups(P=0.872).193(35.6%)patients were vaccinated.Conclusions:COVID-19 infection in ACHD patients require individualized risk stratification and management.Eisenmenger syndrome,single ventricle palliation,complex lesions,and FC-C/D patients were more vulnerable to severe/critical symptoms that required ICU admission,mechanical ventilation,and ECMO.The vaccine was mostly tolerable.

Factors Associated with Children’s Death Due to Congenital Heart Disease in Two National Hospitals of Niamey

Introduction: Congenital heart disease is a major cause of children’s death. In Niger, despite the frequency of these pathologies, very few studies have been carried out on associated mortality in a paediatric environment. The objective of this work was to look for the risk factors of children with congenital heart disease’s death in Niamey. Patients and Method: It is about a cross-sectional study for descriptive and analytical purposes in children aged from 0 to 15 years. Carriers of congenital heart disease followed from January 2016 to July 2021 in two national hospitals in Niamey. The variable depends and the main ante was the occurrence of deaths (yes or no). The explanatory variables were related to the characteristics of the patients, the type of heart disease and management among others. Chi’s tests2 Pearson’s or Fischer’s exact test were used (P Results: During the period of the research, 514 cases of congenital heart disease were studied, including 132 deaths (25.68%). The average age of patients was 14.64 months [10 days - 15 years]. The sex ratio was 1.08. The most common reason for consultation was respiratory distress that was found in 74.90% of patients. Interventricular communication (IVC) and intear communication (CIA) were the most found type of heart disease with 36.53% and 20.44% of cases respectively. Only 9.54% of patients (n = 48) had received surgical management. The risk factors associated with mortality were pulmonary arterial hypertension (54.17%), pulmonary disease (44.55%) and the presence of anemia (63.16%) [OR > 1;p Conclusion: Congenital heart diseases remain an important cause of death among children in Niger. The pulmonary arterial hypertension and the associated comorbidities such as broncho-pulmonary diseases were the main associated factors. In the meantime, an optimal technical management of these factors will help to reduce this mortality.

Classification of congenital cataracts based on multidimensional phenotypes and its association with visual outcomes

●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.

Current Status of Congenital Toxoplasmosis in Brazzaville, Republic of the Congo

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.

Use of Patient-Specific “4D” Tele-Education to Enhance Actual and Perceived Knowledge in Congenital Heart Disease (CHD) Patients

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.

Extra Renal Rhabdoid Tumor: A Rare Cause of Congenital Soft Tissue Tumor

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.

Abnormal function of EPHA2/p.R957P mutant in 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.

Cardiac Malformations in Congenital Hypothyroidism: A Case Report

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.