TAZ and myostatin involved in muscle atrophy of congenital neurogenic clubfoot

BACKGROUND Muscular atrophy is the basic defect of neurogenic clubfoot.Muscle atrophy of clubfoot needs more scientific and reasonable imaging measurement parameters to evaluate.The Hippo pathway and myostatin pathway may be directly correlated in myogenesis.In this study,we will use congenital neurogenic clubfoot muscle atrophy model to verify in vivo.Further,the antagonistic mechanism of TAZ on myostatin was studied in the C2C12 cell differentiation model.AIM To identify muscle atrophy in fetal neurogenic clubfoot by ultrasound imaging and detect the expression of TAZ and myostatin in gastrocnemius muscle.To elucidate the possible mechanisms by which TAZ antagonizes myostatin-induced atrophy in an in vitro cell model.METHODS Muscle atrophy in eight cases of fetal unilateral clubfoot with nervous system abnormalities was identified by 2D and 3D ultrasound.Western blotting and immunostaining were performed to detect expression of myostatin and TAZ.TAZ overexpression in C2C12 myotubes and the expression of associated proteins were analyzed by western blotting.RESULTS The maximum cross-sectional area of the fetal clubfoot on the varus side was reduced compared to the contralateral side.Myostatin was elevated in the atrophied gastrocnemius muscle,while TAZ expression was decreased.They were negatively correlated.TAZ overexpression reversed the diameter reduction of the myotube,downregulated phosphorylated Akt,and increased the expression of forkhead box O4 induced by myostatin.CONCLUSION Ultrasound can detect muscle atrophy of fetal clubfoot.TAZ and myostatin are involved in the pathological process of neurogenic clubfoot muscle atrophy.TAZ antagonizes myostatin-induced myotube atrophy,potentially through regulation of the Akt/forkhead box O4 signaling pathway.

Results of Ponseti Method in the Management of the Congenital Clubfoot

Background: Clubfoot is a debilitating pathology and a source of abnormal gait in children. Treatment with the Ponseti method is the treatment used in the management of congenital clubfoot in children under 9 years old. This study aims to identify the proportion of children with clubfoot supported by the Ponseti method and to evaluate their effectiveness. Materials and Method: A multicenter retrospective descriptive study for six (06) months from June 1st to November 30th, 2019 concerning the evaluation of the Ponseti method in the management of clubfoot in Madagascar was conducted. Results: One hundred ninety-one (191) children with club feet were screened during the study period. One hundred and fifty children, or 226 congenital equine varus clubfoot were treated with the Ponseti method during the study period. The male gender was the most affected compared to the female gender with a sex ratio of 1.75. The clubfoot was bilateral in 50.66% of cases and idiopathic in 92.66%. The initial Pirani score was on average (±SD) 5.04/4.98 (±1.22/1.20). A proportion of 23.33% of cases of recurrence was recorded at 3 months of use of brace abduction splint. Conclusion: In Madagascar, the incidence of congenital clubfoot remains relatively low but clubfoot is still the main limitation of walking and a lack of footwear in children. Ponseti method is the gold standard in the management of this pathology. However, it requires a long-term follow-up.

Prevalence and associated factors of clubfoot in the eastern province of Saudi Arabia: A hospital-based study

BACKGROUND Clubfoot,or congenital talipes equinovarus,is a widely recognized cause of disability and congenital deformity worldwide,which significantly impacts the quality of life.Effective management of clubfoot requires long-term,multidiscip-linary intervention.It is important to understand how common this condition is in order to assess its impact on the population.Unfortunately,few studies have investigated the prevalence of clubfoot in Saudi Arabia.AIM To determine the prevalence of clubfoot in Saudi Arabia via the patient population at King Fahad University Hospital(KFUH).METHODS This was a retrospective study conducted at one of the largest hospitals in the country and located in one of the most densely populated of the administrative regions.RESULTS Of the 7792 births between 2015 to 2023 that were included in the analysis,42 patients were diagnosed with clubfoot,resulting in a prevalence of 5.3 per 1000 live births at KFUH.CONCLUSION The observed prevalence of clubfoot was significantly higher than both global and local estimates,indicating a substantial burden in the study population.

Investigating clubfoot in Saudi Arabia: Prevalence, factors, and future directions

This editorial discusses the significant findings and implications of the study conducted by Alomran et al.This retrospective study,soon to be published,provides valuable insights into the epidemiology of and risk factors associated with clubfoot in a specific Saudi population.By highlighting the study’s key outcomes and discussing its broader implications for public health and clinical practices,this editorial aims to underscore the importance of continued research and targeted interventions in addressing congenital deformities such as clubfoot.

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.

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.

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.

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.

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.

Novel MIP gene mutation causes autosomal-dominant congenital cataract

●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.

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.

Imiquimod:A potential option for inhibition of repigmentation of congenital melanocytic nevus after laser ablation

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.

Transcatheter Closure of Postoperative Residual Atrial or Ventricular Septal Shunts in Patients with Congenital Heart Disease

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.