Cirugía congénitos

JACC Case Rep. 2025 Sep 17:105363. doi: 10.1016/j.jaccas.2025.105363. Online ahead of print.

ABSTRACT

BACKGROUND: Weaning from cardiopulmonary bypass in pediatric cardiac surgery is challenging, especially after prolonged procedures. Delayed chest closure may be necessary in cases of low cardiac output syndrome (LCOS) to support hemodynamic recovery. Although near-infrared spectroscopy is standard for neuromonitoring, amplitude-integrated electroencephalography (aEEG) and continuous electroencephalography (cEEG) are emerging tools.

CASE SUMMARY: We report the case of a 6-month-old infant with transposition of the great arteries who required delayed chest closure after surgical repair. LCOS recurred after chest closure on postoperative day 3 despite stable near-infrared spectroscopy values. Retrospective aEEG/cEEG analysis, unintentionally initiated before closure, showed early EEG abnormalities preceding clinical signs, which were resolved after chest reopening.

DISCUSSION: This case highlights the potential of aEEG/cEEG to detect early cerebral compromise due to LCOS, even when conventional monitoring appears normal, an association not well established in the literature.

TAKE-HOME MESSAGE: Cerebral distress may be detected earlier with aEEG compared with standard monitoring, supporting timely LCOS identification and management.

PMID:40960437 | DOI:10.1016/j.jaccas.2025.105363

Surg Case Rep. 2025;11(1):25-0329. doi: 10.70352/scrj.cr.25-0329. Epub 2025 Sep 9.

ABSTRACT

INTRODUCTION: The main causes of right-to-left shunting (RLS) in patients with atrial septal defect (ASD) are pulmonary hypertension, right ventricular outflow tract obstruction, severe tricuspid regurgitation, and a large ASD resulting in equal bi-atrial pressures. Reports of a case of an unintentional connection of the inferior vena cava (IVC) to the left atrium (LA) discovered many years after the repair of ASD are rare.

CASE PRESENTATION: A 47-year-old male with a history of congenital ASD repair was found to have large RLS during examination of choledocholithiasis. Details of the former surgeries, performed twice for some reason, were unknown. He had cyanosis of fingers, but neither pulmonary hypertension nor right ventricular outflow obstruction. Transesophageal echocardiography, cardiac CT, and cardiac catheterization demonstrated a direct connection between the IVC and the LA as well as a residual ASD. The patient subsequently underwent successful surgical repair. It was speculated that the eustachian valve (EV) of the IVC had been wrongly taken as the lower margin of the defect in the first repair, and then a new ASD was created in the second surgery to maintain his hemodynamics. Though he had RLS with ASD, he subsequently lived a normal life for approximately 40 years, albeit with exertional dyspnea and mild cyanosis.

CONCLUSIONS: We report on a case of iatrogenic RLS after ASD closure. The surgeon must always check the intracardiac anatomy carefully and close the ASD without using other structures such as the EV.

PMID:40959850 | PMC:PMC12435984 | DOI:10.70352/scrj.cr.25-0329

Front Cardiovasc Med. 2025 Sep 1;12:1633002. doi: 10.3389/fcvm.2025.1633002. eCollection 2025.

ABSTRACT

This study aimed to investigate the long-term effects of different ASD closure methods on cardiovascular events in adults. A retrospective analysis was conducted using data obtained from the Korean National Health Insurance Service, focusing on patients aged ≥20 years diagnosed with ASD between 2004 and 2015. Participants were categorized into the observation, device closure, and surgery groups. Propensity score matching (PSM) was employed to mitigate imbalances among the groups. The Cox proportional hazards model was utilized to compare the occurrence of major adverse cardiovascular events (MACE), including stroke, myocardial infarction (MI), coronary revascularization, and all-cause death. In total, 20,643 patients with ASD were included in this study. After PSM, there were 6,636 in the observation group and 3,318 each in the device closure and surgery group. Over a 5-year follow-up period, the adjusted hazard ratios for MACE were significantly lower in the surgery (0.72; 95% CI: 0.66-0.79) and device closure groups (0.85; 95% CI: 0.78-0.92) than in the observation group. Beneficial effects on stroke and all-cause mortality were observed in both intervention groups. Additionally, a beneficial effect on coronary revascularization was observed in the surgery group, whereas the impact on MI was not significantly different between the groups. ASD closure, whether by surgery or using a device, is associated with a decreased incidence of cardiovascular outcomes in adults. The benefits on cardiovascular outcomes vary with the type of closure method, underscoring the need for a tailored approach to manage ASD in adults.

PMID:40959496 | PMC:PMC12434082 | DOI:10.3389/fcvm.2025.1633002

Food Sci Nutr. 2025 Sep 14;13(9):e70907. doi: 10.1002/fsn3.70907. eCollection 2025 Sep.

ABSTRACT

Breastfeeding offers critical health benefits for infants, including those with mild congenital heart disease (CHD). However, breastfeeding in this population faces multifaceted challenges. At the individual level, maternal anxiety associated with the CHD diagnosis may undermine breastfeeding confidence; at the systemic level, institutional support for establishing and sustaining breastfeeding remains inadequate. Behavioral interventions may influence feeding practices for these infants. To evaluate the effect of a Behavioral Breastfeeding Intervention Program (BBIP) for infants with mild CHD on maternal breastfeeding behavior, exclusive breastfeeding (EBF) rates, and infant growth. Sixty-eight mother-infant dyads were randomly assigned to the BBIP group (n = 34) or a control group receiving routine care (n = 34). The BBIP was grounded in the Behavior Change Wheel (BCW) behavior change theory and included personalized counseling, home visits, and ongoing support via social media. The primary outcome was breastfeeding behavioral scores. Secondary outcomes included EBF rates, the proportion of breast milk in the daily diet, and infant growth metrics assessed at 1, 3, and 6 months. Mothers in the BBIP group reported significantly higher breastfeeding behavioral scores (p < 0.001). EBF rates at 1, 3, and 6 months were 47.1%, 45.5%, and 43.8%. Proportion of breast milk in the daily diet was approximately 78.35%, 69.67%, and 56.40%. Growth data over 6 months showed non-inferiority in outcomes for infants with CHD. The behavioral intervention significantly enhanced breastfeeding practices among mothers of infants with mild CHD through multidimensional strategies. Non-inferior growth trajectories were observed in breastfed infants.

PMID:40959176 | PMC:PMC12433894 | DOI:10.1002/fsn3.70907

Pediatr Surg Int. 2025 Sep 16;41(1):295. doi: 10.1007/s00383-025-06196-3.

ABSTRACT

BACKGROUND: Anterior anus (AA) is a congenital anatomical variant with unclear clinical implications and management strategies. This study evaluated the clinical features, associated anomalies, and outcomes of AA in female infants.

METHODS: This multicenter retrospective cohort study included infants diagnosed with AA between 2020 and 2024 at six tertiary referral centers in South Korea. The clinical characteristics, coexisting anomalies, and outcomes including constipation and urinary tract infections were analyzed.

RESULTS: Among the 64 patients included in this study, 51.6% had a concomitant perineal groove. Congenital heart diseases were the most common coexisting anomaly, occurring in 32 patients. During a mean follow-up of 22.9 months, constipation was observed in 23% of the patients. Urinary tract infections were not observed. The perineal groove resolved spontaneously in 87.9% of cases.

CONCLUSION: AA is a benign anatomical variant that does not increase the risk of constipation or urinary tract infections. Given the observed association with congenital heart disease, cardiac evaluation should be considered when clinically indicated.

PMID:40957958 | DOI:10.1007/s00383-025-06196-3

Pediatr Res. 2025 Sep 15. doi: 10.1038/s41390-025-04390-6. Online ahead of print.

NO ABSTRACT

PMID:40954232 | DOI:10.1038/s41390-025-04390-6

Ann Thorac Surg. 2025 Sep 13:S0003-4975(25)00877-X. doi: 10.1016/j.athoracsur.2025.08.047. Online ahead of print.

ABSTRACT

BACKGROUND: Understanding center performance in congenital heart surgery remains challenging, with limitations to standard regression approaches. Modern causal inference methods may improve estimation of expected mortality through better balancing case-mix but have not been studied.

METHODS: Benchmark operations (BMO) across 115 centers (2016-2022) from the STS Congenital Database were included. The standard approach uses mixed-effects logistic regression to estimate center's expected operative mortality inclusive of all patients, even those treated at the center of interest ("target") and those from other centers regardless of how closely aligned with the target. The causal approach creates tailored comparison groups, including only like patients from other centers using weights. We used three different weights (entropy balancing [EBW], stable balancing [SBW], covariate balancing propensity score [CBPS]) and compared to standard regression.

RESULTS: Among 42,579 BMO, overall operative mortality was 2.37%. Centers' mean [25th, 75th] regression-based expected mortality was lower (2.03% [1.42%, 2.58%]) than weighted estimates (EBW=2.10% [1.64%, 2.67%]; SBW=2.09% [1,57%, 2.69%]; CBPS=2.10% [1.63%, 2.66%]) and less variable. The mean ratio of weighted to regression mortality estimate was 1.03 for all estimates, with 25th and 75th percentiles: EBW [0.89, 1.16]; SBW [0.87, 1.15]; and CBPS [0.92, 1.17]. The distributions of operation type and other risk factors were better aligned with the target center in weighted estimates. The largest differences among methods were observed at smaller volume centers.

CONCLUSIONS: Causal inference methods constructed more tailored comparison groups for estimating center's expected mortality, with better alignment of case-mix. Adoption of newer approaches may be warranted.

PMID:40953790 | DOI:10.1016/j.athoracsur.2025.08.047

J Thorac Cardiovasc Surg. 2025 Sep 13:S0022-5223(25)00770-6. doi: 10.1016/j.jtcvs.2025.08.049. Online ahead of print.

ABSTRACT

BACKGROUND: The Ross procedure is a well-established option for aortic valve replacement, although progressive autograft dilation remains a significant long-term complication. While several reinforcement techniques have been proposed to address this issue, their effectiveness has yet to be rigorously evaluated.

METHODS: A PRISMA-compliant search was conducted for studies involving reinforced (RR) and non-reinforced (NR) Ross procedures. Meta-analysis with individual patient data (IPD) assessed survival and freedom-from-autograft reoperation rates. Subgroup analyses were conducted for the various reinforcement methods.

RESULTS: Sixteen cohort studies comprising 2,514 reinforced Ross (RR) and 595 non-reinforced (NR) patients were included. Pre- and peri-operative characteristics were comparable between groups. Individual patient data analysis of comparative studies demonstrated superior survival in the RR group, with 5-, 10-, and 15-year survival rates of 100%, 98.8%, and 98.8%, respectively, compared to 95.0%, 93.7%, and 82.6% in the NR group (HR: 11.9, p=0.016). Similarly, freedom from autograft reoperation at 5, 10, and 15 years was 96.4%, 94.2%, and 86.6% in the RR group versus 95.8%, 87.6%, and 77.7% in the NR group (HR: 2.06, p<0.001). Subgroup analysis showed comparable outcomes across different reinforcement techniques.

CONCLUSIONS: Reinforced Ross procedures are associated with improved survival and freedom-from-autograft reoperation rates compared to unsupported pulmonary autografts.

PMID:40953744 | DOI:10.1016/j.jtcvs.2025.08.049

Sci Rep. 2025 Jul 3;15(1):23690. doi: 10.1038/s41598-025-09461-6.

ABSTRACT

Due to advances in medical and surgical care, there are more adults than children living with congenital heart disease (CHD). Acute kidney injury (AKI) is a common complication following cardiac surgery in patients with CHD, with creatinine lacking sensitivity for early detection. Renal functional reserve (RFR), the kidney's capacity to increase filtration under stress, has emerged as a potential predictor of AKI. Our primary study objective was to evaluate whether preoperative RFR, using both creatinine clearance (CrCl) and cystatin C estimated glomerular filtration rate (eGFR) methods, predicts AKI following cardiopulmonary bypass in young adults with CHD. As a secondary objective, we compared RFR in CHD patients to that of healthy controls. This prospective cohort study included 30 young adults (ages 18-40) with acyanotic CHD and 8 healthy controls with normal baseline kidney function by serum creatinine. Preoperative RFR was measured using CrCl and cystatin C eGFR before and after a protein load. Postoperative AKI was diagnosed using the Kidney Disease Improving Global Outcomes criteria. Twelve (40%) CHD patients developed AKI, exhibiting significantly lower RFR when compared to those without AKI (median CrCl RFR: 9.6 vs. 35.0 mL/min/1.73m2; cystatin C eGFR RFR: 5.5 vs. 11.5 mL/min/1.73m2; P < 0.01). The ROC curve area for AKI prediction was 1.0 (CrCl RFR) and 0.88 (95% CI: 0.72-1.00, cystatin C eGFR RFR). CHD patients had lower RFR than controls (median CrCl: 25.5 vs. 56.4 mL/min/1.73m2, P < 0.01; median cystatin C eGFR: 9.0 vs. 13.5 mL/min/1.73m2, P = 0.03). In conclusion, preoperative RFR accurately predicts AKI in young adults with acyanotic CHD, providing a tool for the identification of high-risk patients and potentially improving perioperative care.

PMID:40604226 | DOI:10.1038/s41598-025-09461-6

J Heart Lung Transplant. 2025 Jun 30:S1053-2498(25)02054-6. doi: 10.1016/j.healun.2025.06.018. Online ahead of print.

ABSTRACT

BACKGROUND: This study aims to evaluate the clinical outcomes of mechanical circulatory support (MCS) using paracorporeal continuous flow (pCF) pumps in children.

METHODS: This multicenter retrospective study used the ACTION database (4/2018-7/2023). Children who were supported with a pCF pump were included. The primary outcome was survival to transplant, explant, or transition to a durable device. The secondary outcomes were adverse events. The outcomes were stratified between non-congenital heart disease (CHD) and CHD with single and biventricular physiology.

RESULTS: 367 patients (CHD, N=204, non-CHD, N=163) were supported with a median of 25 days of support (CHD: 33 vs non-CHD 19 days, P=0.04). CHD included single ventricle (n=135 [66.2%]) and biventricular physiology (n=69 [33.8%]). Non-CHD included dilated cardiomyopathy (n=130[79.8%]), transplant graft dysfunction (n=9 [5.5%]), and others (n=18[11%]). Patients with CHD were younger (0.55 vs. 2.0 years, P=<0.001) and smaller (BSA 0.35 vs. 0.52 m2, P=<0.001, weight 6.7 vs 11.1 kg, P=<0.001) than those without CHD. Overall positive outcome was 77.9% (n=286) [survival to transplant: 38.7 % (n=142), durable device: 22.9% (n=84)], recovery: 16.3% (n=60)]. Between CHD and non-CHD, CHD showed lower positive outcomes (73.0 vs. 82.2%, P=0.05) with higher mortality (24 vs 14.1 %, P=0.02). There were comparable positive outcomes between single and biventricular CHD (73.0%), with a lower recovery rate in single ventricles (8.9% vs 21.8%, P=0.01).

CONCLUSION: Mechanical circulatory support using a pCF pump in children was associated with a positive outcome in 78% of patients in a contemporary cohort. However, patients with CHD patients fared worse than patients without CHD.

PMID:40602507 | DOI:10.1016/j.healun.2025.06.018

Sci Transl Med. 2025 Jul 2;17(805):eadt2426. doi: 10.1126/scitranslmed.adt2426. Epub 2025 Jul 2.

ABSTRACT

Ritscher-Schinzel syndrome (RSS) is a congenital malformation syndrome characterized by cerebellar, cardiac, and craniofacial malformations and phenotypes associated with liver, skeletal, and kidney dysfunction. The genetic cause of RSS remains to be fully defined, and limited information is available regarding the root cause of the multiple tissue phenotypes. Causative mutations in the Commander multiprotein assembly are an emerging feature of this syndrome. Commander organizes the sorting nexin-17 (SNX17)-dependent recycling of hundreds of integral membrane proteins through the endosomal network. Here, we identify previously unrecognized cohorts of patients with RSS that we genetically and clinically analyzed to identify causative genes in the copper metabolic murr1 domain-containing (COMMD) proteins COMMD4, COMMD9, and coiled-coil domain containing 93 (CCDC93) subunits of the Commander complex. Using interactome analysis, we determined that these mutations disrupted Commander assembly and, through cell surface proteomics, that this reduces tissue-specific presentation of cell surface integral membrane proteins essential for kidney, bone, and brain development. We established that these integral proteins contained ΦxNPxY/F or ΦxNxxY/F sorting motifs in their cytoplasmic-facing domains (where Φ is a hydrophobic residue and x is any residue) that are recognized by SNX17 to drive their Commander-dependent endosomal recycling. Last, through generation of mouse models of RSS, we show replication of RSS-associated clinical phenotypes including proteinuria, skeletal malformation, and neurological impairment. Our data establish RSS as a "recyclinopathy" that arises from a dysfunction in the Commander endosomal recycling pathway.

PMID:40601774 | DOI:10.1126/scitranslmed.adt2426

Future Sci OA. 2025 Dec;11(1):2527473. doi: 10.1080/20565623.2025.2527473. Epub 2025 Jul 2.

ABSTRACT

Congenital pulmonary airway malformation (CPAM) and pulmonary sequestration (PS) are among the most common congenital lung malformations and their association is extremely rare. In exceptional cases, patients with CPAM remain asymptomatic until adulthood. We report the case of a 30-year-old man who was hospitalized in our pneumology department for fever, cough and chest pain. Radiological and histological findings confirmed the coexistence of CPAM and PS. The patient underwent surgical resection and recovered well. This is one of the few reported cases in the literature that describe the uncommon association of CPAM and PS with an infrequent diagnosis in adulthood. Clinicians should consider congenital malformations in the differential diagnosis of recurrent respiratory infections, particularly when they affect the same pulmonary lobe.

PMID:40600506 | DOI:10.1080/20565623.2025.2527473

Echocardiography. 2025 Jul;42(7):e70237. doi: 10.1111/echo.70237.

ABSTRACT

We describe a case of congenitally corrected transposition of great arteries (ccTGA) with associated double aortic arch and membranous septal aneurysm. We describe the multimodality imaging features and clinical presentation due to these anomalies.

PMID:40600358 | DOI:10.1111/echo.70237

BMC Med Imaging. 2025 Jul 1;25(1):229. doi: 10.1186/s12880-025-01803-0.

ABSTRACT

BACKGROUND: Single ventricle (SV) Fontan patients are at risk for the development of pathological cervicothoracic lymphatic drainage pathways that are involved in the development of serious conditions such as plastic bronchitis or chylothorax. Visualization and categorization of cervicothoracic lymphatic drainage pathways might therefore help to stratify prognosis and to individualize therapy and follow-up for Fontan patients. This study aimed to show that the 3-dimensional (3D) modified Dixon (mDixon) steady state magnetic resonance (MR) angiography, commonly used to image cardiovascular anatomy, can visualize cervicothoracic lymphatic drainage pathways in high resolution in Fontan patients.

METHODS: 3D mDixon steady state MR angiography of 88 pediatric and young adult patients with a Fontan circulation were retrospectively analysed. The pattern of cervicothoracic lymphatic pathways and image quality according to diagnostic value were assessed. Furthermore, ventricular volumes, mass and ejection fraction from cine imaging were measured.

RESULTS: Image quality was assessed as very good or good in > 90% of the cases. Six patients had a lymphatic complication of which five (83.3%) had a higher cervicothoracic lymphatic pathway type (type 3 or 4).

CONCLUSIONS: 3D mDixon steady state MR angiography is an established method to assess cardiovascular anatomy and function in Fontan patients. The method also allows to visualize and evaluate the cervicothoracic lymphatic anatomy with high image quality. 3D mDixon steady state MR angiography is therefore particularly useful to comprehensively assess Fontan patients, a patient group prone not only to cardiac but also lymphatic failure.

PMID:40597770 | DOI:10.1186/s12880-025-01803-0

Minerva Pediatr (Torino). 2025 Jul 2. doi: 10.23736/S2724-5276.25.07753-5. Online ahead of print.

ABSTRACT

BACKGROUND: Pediatric tracheal surgery includes several complex and rare procedures. We report the surgical experience at our center.

METHODS: Our center has multidisciplinary team manages laryngotracheal malformations. We retrospectively analyzed all tracheal surgeries from January 2009 to September 2023, excluding endoscopic cases and tracheostomy insertion, revision, or closure not related to reconstructive tracheal surgery. We evaluated diagnosis, comorbidities, type of surgery, need for tracheostomy, complications, death, outcome in terms of decannulation and adequate caliber airway.

RESULTS: A total of 122 patients with a median age of 2.61 years (0-25.4 years) were operated for congenital (59.8%) or acquired (40.2%) tracheal pathology. The procedures performed were: cricothyroid resection (N.=18; 14.8%), laryngotracheal reconstruction with rib cartilage graft (N.=33; 27%), tracheal resection-anastomosis (N.=20; 16.4%), laryngotracheal cleft closure (N.=5; 4.1%), "slide tracheoplasty" (N.=15; 12.3%), posterior tracheopexy (N.=14; 11.5%); isolated tracheoesophageal fistula closure (N.=17; 13.9%). Depending on the type of operation, cardiac surgeons and otolaryngologists were involved. Preoperative tracheotomy was required in 54 patients and postoperative in 51 patients. We reported a mortality of 6.1%, or seven patients, four of whom died in the immediate postoperative period, but only one death was due to surgical causes. Other intraoperative complications were reported in two patients (1.6%) and postoperative complications in 34 patients (27.9%). Ninety-two patients (75.4%) were alive with adequate airway caliber and no need for tracheostomy.

CONCLUSIONS: There are many indications for tracheal surgery and a multidisciplinary approach has been essential. Tracheal surgery is complex and potentially associated with major complications, but outcomes are generally satisfactory.

PMID:40598991 | DOI:10.23736/S2724-5276.25.07753-5

Gen Thorac Cardiovasc Surg Cases. 2025 Jul 1;4(1):29. doi: 10.1186/s44215-025-00214-5.

ABSTRACT

A 21-year-old female patient had undergone two open heart surgeries in childhood, including Konno ventriculoplasty with mechanical aortic valve replacement. She underwent a redo mechanical aortic valve replacement and patch enlargement of stenotic ascending aorta using a triplex prosthetic graft. Unfortunately, 1 month after surgery, the patient was readmitted to the hospital with a diagnosis of midline chest wound infection. A culture sample from the wound revealed Serratia marcescens, however, subsequent all culture tests were negative. Since then, there has been a continued serous discharge from the caudal side of the midline skin incision scar and chest tube removal scar in the chest. Despite the implementation of four open chest treatments, the issue of perigraft seroma persisted, and a diagnosis was ultimately made. During her subsequent admission, negative pressure wound therapy was employed, followed by daily sterilization and film dressing post-discharge. It is understood that a gradual decrease in drainage and complete resolution of the seroma occurred 21 months after surgery, without the removal of the implanted triplex patch.

PMID:40598704 | PMC:PMC12220449 | DOI:10.1186/s44215-025-00214-5

BMC Nephrol. 2025 Jul 1;26(1):334. doi: 10.1186/s12882-025-04269-y.

ABSTRACT

BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) represents an important global health challenge. However, the emerging analysis of the burden of CAKUT is limited and outdated. This study aimed to evaluate the global burden and temporal trends of CAKUT across 204 countries and territories from 1990 to 2021.

METHODS: Data on the prevalence, incidence, mortality, and disability-adjusted life years (DALYs) of CAKUT from 1990 to 2021 were obtained from the Global Burden of Disease Study 2021. Temporal trends were analyzed using Joinpoint regression. The association between CAKUT burden and the socio-demographic index (SDI) was examined via Spearman correlation analysis. Decomposition analysis was used to estimate the effects of population growth, aging, and epidemiological changes on overall change of CAKUT burdens. The Bayesian age-period-cohort model was utilized to predict the CAKUT burden through 2036.

RESULTS: From 1990 to 2021, the global prevalence of CAKUT increased by 21.50%, reaching 6.34 million (95% uncertainty interval [UI]: 5.07, 7.90), with a modest rise of 3.96% in the age-standardized prevalence rate (ASPR). In contrast, the incidence, mortality, and DALYs of CAKUT declined, with the age-standardized incidence rate (ASIR) decreasing by 2.86%, the age-standardized mortality rate (ASMR) by 20.00%, and the age-standardized DALY rate (ASDR) by 18.46%. In 2021, Southern Sub-Saharan Africa exhibited the highest ASPR and ASIR, while Central Latin America recorded the highest ASMR, and Southern Latin America had the highest ASDR. Furthermore, ASPR, ASIR, ASMR, and ASDR were all negatively correlated with SDI. Decomposition analysis revealed that population growth drove the increase in CAKUT prevalence. Projections to 2036 suggest further increases in ASPR and ASIR, whereas ASMR and ASDR are expected to decline.

CONCLUSION: Despite reductions in ASIR, ASMR, and ASDR, the increasing ASPR underscores the persistent global burden of CAKUT. Targeted interventions are urgently needed, particularly in high-burden regions such as Southern Sub-Saharan Africa.

PMID:40597805 | PMC:PMC12219625 | DOI:10.1186/s12882-025-04269-y

Sci Rep. 2025 Jul 1;15(1):20935. doi: 10.1038/s41598-025-04838-z.

ABSTRACT

The Pediatric Quality of Life Inventory™ (PedsQL™) family impact module is a widely used tool for assessing the health-related quality of life (HRQoL) of caregivers of children with chronic illnesses; however, it has not been available in Swahili. This study aimed to translate, culturally adapt, and validate the Swahili version of the PedsQL family impact module (FIM) among caregivers of children with heart disease in Tanzania. As a secondary aim, the study explored differences in caregiver HRQoL between those whose children had undergone surgery and those who had not, using the newly translated tool. A cross-sectional survey was conducted among 204 primary caregivers at a national cardiac referral centre. Standardised translation and adaptation procedures were followed. Psychometric evaluation included internal consistency reliability, construct validity through known-groups comparisons, and effect size estimation. The Swahili version demonstrated excellent internal consistency (Cronbach's α = 0.99) and good construct validity. Socioeconomic status was the only consistent predictor of HRQoL in multivariable models. Caregivers in the operated group consistently reported higher HRQoL scores, highlighting the potential benefit of surgical intervention on family well-being. These findings strongly support the Swahili PedsQL FIM as a culturally appropriate and psychometrically sound tool. It offers promise for clinical care and future outcome evaluations in similar settings.

PMID:40594323 | PMC:PMC12216588 | DOI:10.1038/s41598-025-04838-z

Surg Case Rep. 2025;11(1):25-0230. doi: 10.70352/scrj.cr.25-0230. Epub 2025 Jun 25.

ABSTRACT

INTRODUCTION: Coagulation disorders can lead to massive perioperative bleeding regardless of the type of surgery. Their preoperative identification is essential (from a complete history of bleeding tendency) and steps should be taken to mitigate such complications at the time of surgery. Alpha2-plasmin inhibitor (α2-PI) deficiency is a rare congenital coagulation disorder resulting in activation of fibrinolysis and requiring specific treatment with antifibrinolytic agents. Lung transplantation has not been previously reported in a patient with α2-PI deficiency.

CASE PRESENTATION: A 46-year-old female affected by chronic obstructive pulmonary disease with congenital α2-PI deficiency was referred to our hospital for cadaveric lung transplantation. Due to a previous history of intramedullary hemorrhage, we conducted lung transplantation with prophylactic administration of fresh frozen plasma (FFP) and tranexamic acid during surgery. We used the point of care test (POC) rotational thromboelastometry (ROTEM) to diagnose intraoperative coagulopathy. The postoperative course was uneventful, and she was discharged from the hospital 42 days after lung transplantation. Six months have passed since transplant, and she is still attending outpatient clinics in good health and with no record of bleeding episodes.

CONCLUSIONS: Lung transplantation for a patient with α2-PI deficiency was safely performed with the use of planned FFP transfusion and tranexamic acid. A POC ROTEM testing approach to perioperative management was useful during lung transplantation.

PMID:40589561 | PMC:PMC12207097 | DOI:10.70352/scrj.cr.25-0230

Cleft Palate Craniofac J. 2025 Jul 1:10556656251355039. doi: 10.1177/10556656251355039. Online ahead of print.

ABSTRACT

BackgroundMicrotia is a congenital anomaly characterized by malformation of the external ear. The complex chronic conditions (CCC) classification system identifies children with long-standing health problems based on various body systems and disease types. This study utilized the Pediatric Health Information System (PHIS) database to investigate the relationship between microtia and CCCs to guide screening protocols and provide insight into patient-centered treatment.MethodsA retrospective review of PHIS was conducted between 2015 and 2023. Patients were identified with an initial encounter with an associated microtia diagnosis from all participating hospitals. Patient demographics, associated organ system flags, and CCCs were collected and analyzed. Descriptive statistics were performed and effect sizes were calculated to assess associations between variables and microtia complexity.ResultsA total of 20,313 patients with microtia were identified. Of these patients, 11 183 were male (55.1%), non-Hispanic White (n = 8089, 41.9%), or Hispanic (n = 6512, 33.8%). Nearly 40% of diagnoses were associated with at least 1 CCC (n = 8234), and a significant proportion (n = 5715) were noted to have 2 or more CCCs. Cardiovascular diagnoses were among the most common organ system affected (16.8%), followed by gastrointestinal conditions (15.4%).ConclusionThis study highlights a significant correlation between microtia and CCCs. With 40% of patients diagnosed with microtia also presenting with at least 1 CCC, this study underscores the importance of comprehensive medical assessment and care strategies while further supporting the increased correlation of cardiac conditions in this population. This necessitates a re-evaluation of first-line screening modalities for patients presenting with microtia.

PMID:40589417 | DOI:10.1177/10556656251355039