Search Results (1,038)

Background: Ureteropelvic junction obstruction (UPJO) represents a common congenital anomaly in infants and young children. While minimally invasive approaches, including laparoscopic pyeloplasty (LP) and robot-assisted laparoscopic pyeloplasty (RALP), have gained acceptance, comparative outcomes in children younger than 3 years have still not been well-established. This study aimed to evaluate the safety and efficacy of RALP versus LP in infants and children younger than 3 years or weighing < 15 kg. Methods: A systematic literature search of PubMed, Web of Science, and Embase was conducted through May 2025. Five retrospective cohort studies comprising 272 patients met inclusion criteria (age younger than 3 years or weighing < 15 kg). Meta-analysis was performed using random-effects models. Results: Hospital stay was significantly shorter in the RALP group compared with LP (mean difference = −1.69 days; 95% CI: −2.71 to −0.67). No statistically significant differences were observed in operative time, complication rates, or success rates between approaches. Conclusions: RALP is associated with significantly reduced hospitalization time compared with LP in infants and young children, while maintaining comparable safety and efficacy profiles. These findings support RALP as a valuable minimally invasive option in this challenging patient population, though larger prospective studies are warranted. Full article

Alpha-fetoprotein (AFP) is a glycoprotein primarily produced by the fetal liver and yolk sac during development. It is a multifaceted biomarker with significant applications in the prenatal screening of congenital abnormalities, cancer, and other disorders. The level of AFP in maternal blood may indicate several obstetric concerns and complications during pregnancy. Atypical AFP levels are commonly utilized as a biomarker for detecting fetal anomalies, placental complications, and other pregnancy-related issues. These findings raise concerns regarding the effectiveness of screening maternal serum alpha-fetoprotein (MS-AFP) as a primary indicator of pregnancy problems and underscore the need for further investigation into the functional role of AFP throughout pregnancy. The measurement of MS-AFP has been utilized for the past four decades. It is anticipated that MS-AFP measurement will continue to be utilized as a component of integrated or sequential tests for chromosomal abnormalities and may serve as a prognostic indicator for adverse obstetric outcomes. Critically, whether AFP functions solely as a passive marker or plays active biological roles in pregnancy physiology and pathology remains unresolved, necessitating additional mechanistic investigation and discourse. This review consolidates critical data from numerous studies on AFP, focusing specifically on its diagnostic and prognostic applications for congenital abnormalities and problems during pregnancy. This review also identifies key research gaps regarding the functional biology of AFP, particularly whether AFP functions as a passive biomarker or an active participant in the pathophysiology of adverse pregnancy outcomes. Full article

Background and Clinical Significance: Bicuspid aortic valve (BAV) is the most common congenital heart defect and may coexist with other cardiovascular anomalies. Among these is a single coronary artery (SCA), a rare congenital condition in which the entire coronary circulation originates from a single coronary ostium. Cardiac computed tomography (CCT) enables simultaneous evaluation of coronary artery anatomy and aortic valve morphology with high spatial resolution, which may influence procedural strategy in patients undergoing valve interventions. Case Presentation: This report represents the first documented case of a 59-year-old male with mixed aortic valve disease in whom preoperative CCT revealed the coexistence of BAV, SCA (Lipton type L-I), and myocardial bridging (MB) involving the mid segment of the left anterior descending artery (LAD). Identification of these findings was crucial for preoperative assessment and contributed to the selection of an appropriate surgical strategy. Conclusions: CCT plays a key role in the preoperative evaluation of valvular heart disease, including in patients with coexisting BAV and SCA. It enables individualized procedural planning and minimizes the risk of perioperative complications. Full article

Background/Objectives: Children with congenital urogenital anomalies (CUA) face increased risk of urinary tract infections (UTIs) and may harbor resistant organisms due to recurrent infections and antibiotic exposure. This study characterized the distribution of uropathogens and antimicrobial resistance patterns at a tertiary center in Saudi Arabia. Methods: This retrospective cohort study included pediatric patients (<18 years) with documented congenital urogenital anomalies and positive urine cultures at King Khalid University Hospital, Riyadh (2015–2025). Susceptibility interpretations (S/I/R) were extracted from the hospital laboratory information system; multidrug resistance (MDR) was defined using organism-specific Magiorakos criteria. Results: A total of 168 patients (72.0% male; mean age 4.1 ± 4.5 years) contributed 411 UTI episodes. Among 403 mono-organism episodes (after excluding eight polymicrobial cultures), Escherichia coli predominated (150/403, 37.2%), followed by Klebsiella pneumoniae (96/403, 23.8%) and Pseudomonas aeruginosa (33/403, 8.2%). High resistance was observed for ampicillin (83.6%), trimethoprim-sulfamethoxazole (54.2%), and cephalosporins (cefazolin 62.8%, cefotaxime 35.6%). Carbapenems (2.9%) and aminoglycosides (9.2%) retained >90% susceptibility. Overall MDR was 35.5%, highest among Klebsiella oxytoca (57.1%) and Escherichia coli (47.6%). Recurrent infections showed numerically higher unadjusted resistance than single episodes. Conclusions: Pediatric patients with congenital urogenital anomalies showed high first-line antibiotic resistance. Carbapenems and aminoglycosides retained predominantly susceptible in vitro profiles in this cohort and may inform empiric considerations alongside ongoing local susceptibility surveillance for this high-risk population. Full article

Extremity vascular malformations in children and adolescents are congenital vascular developmental abnormalities that often present to pediatric orthopedic surgeons with pain, swelling, restricted motion, contracture, gait disturbance, limb asymmetry, and growth-related deformity rather than with an obvious vascular phenotype. The orthopedic importance of these lesions lies less in surface appearance than in their potential to affect muscle balance, joint integrity, osseous development, and peri-procedural safety. This review translates contemporary vascular anomaly classification and multidisciplinary management pathways into a practical orthopedic framework for diagnosis, referral, and longitudinal limb management. The most useful first step is to distinguish low-flow from high-flow lesions and then define lesion depth, periarticular or osseous involvement, coagulopathy risk, and syndromic overgrowth phenotype. Ultrasound is usually the first-line imaging modality for flow characterization, whereas magnetic resonance imaging is the cornerstone for defining extent and planning treatment. Plain radiographs remain highly relevant for identifying phleboliths, osseous remodeling, arthropathy, contracture-related deformity, and limb-length discrepancy. Venous malformations generally warrant pathway-based coagulation assessment, especially D-dimer and fibrinogen, because localized intravascular coagulopathy has direct implications for intervention and surgery. Arteriovenous malformations are best managed within specialist multidisciplinary teams. Fibro-adipose vascular anomaly and syndromic overgrowth phenotypes warrant particular attention because they frequently drive pain, contracture, and progressive limb imbalance. Outcome assessment in this field should extend beyond lesion size and incorporate pain, function, quality of life, and growth-related consequences. For pediatric orthopedic surgeons, management should move from late deformity correction toward early classification, early referral, longitudinal surveillance of joint and growth-related complications, and careful integration of local, surgical, and systemic therapies. Full article

Background/Objectives: Septate uterus is the most prevalent uterine malformation and is commonly associated with impaired reproductive outcomes. Hysteroscopic metroplasty is the gold standard treatment, but surgical management of complex septate uteri with associated cervical and vaginal anomalies remains challenging. This study aimed to evaluate surgical and reproductive outcomes following a standardized minimally invasive hysteroscopic approach using a 15 Fr bipolar mini-resectoscope across different subtypes. Methods: This retrospective single-center, single-surgeon study included women who underwent hysteroscopic correction of partial and complete septate uterus, with or without cervical and/or vaginal anomalies, between January 2021 and January 2025 at the Digital Hysteroscopic Clinic CLASS Hysteroscopy, Fondazione Policlinico A. Gemelli IRCCS, Rome, Italy. Preoperative assessment included three-dimensional transvaginal ultrasound and diagnostic hysteroscopy. All procedures were performed using a standardized hysteroscopic technique with a 15 Fr bipolar mini-resectoscope. Surgical outcomes included operative time and the need for second-step surgery. Reproductive outcomes included clinical pregnancy rate (CPR), live birth rate (LBR), and miscarriage rate (MR). Results: A total of 154 patients were included, comprising 70 partial and 84 complete septate uteri; 52.4% of complete septa were associated with cervical and/or vaginal anomalies. Median operative time was 18.0 min for partial septa and 31.0 min for complete septa (p < 0.01), and a second surgical step was required in only 5/84 complete septa (5.9%) and in none of the partial septa. Reproductive outcomes were analyzed in a subgroup of 70 patients who attempted conception. After metroplasty, CPR increased from 35.7% to 84.3% (p < 0.01), LBR per pregnancy increased from 16.0% to 78.0% (p < 0.01), and MR per pregnancy decreased from 84.0% to 10.2% (p < 0.01). Postoperative reproductive outcomes appeared comparable between partial and complete septa and according to the presence of associated anomalies. Conclusions: A standardized hysteroscopic technique using a 15 Fr bipolar mini-resectoscope is feasible and effective for treating septate uterus, including complex cases associated with cervical and/or vaginal anomalies. Favorable reproductive outcomes can be achieved regardless of anomaly complexity when accurate preoperative diagnosis and a structured surgical approach are applied. Full article

Fanconi anemia (FA) is a rare inherited disorder associated with impaired DNA repair, characterized by congenital anomalies, bone marrow failure, and a significantly increased risk of developing malignancies, particularly squamous cell carcinoma (SCC) of the head and neck. Treatment options for advanced SCC in FA are limited due to hypersensitivity to DNA-damaging agents. This article presents a unique case of SCC that developed in a 17-year-old patient with FA caused by a homozygous mutation in the FANCA gene. At the age of 10, he received a bone marrow transplant from a compatible related donor. Conditioning therapy included busulfan, thymoglobulin, and fludarabine, while graft-versus-host disease (GvHD) prophylaxis was administered with rituximab, methotrexate, and cyclosporine A. Nevertheless, he developed chronic cutaneous GVHD, which was treated for four years with ruxolitinib and tacrolimus, achieving only partial control. During this period, locally advanced cutaneous SCC (T3N0M0, stage III) manifested on the face. Surgery, radiation therapy, and immunotherapy with pembrolizumab led only to an initial partial response. This first pediatric case of immunotherapy for SCC in FA highlights the challenges of treating this rare patient group. Nevertheless, combining radiation therapy with immunotherapy may represent a possible option for disease control. Full article

Myocardial bridging (MB) is a congenital coronary anomaly characterized by systolic compression of the intramyocardial arterial segment and delayed early diastolic artery relaxation, resulting in reduced vessel luminal diameter in diastole. Current evidence suggests that MB, particularly in the left anterior descending artery, may cause anginal symptoms and/or myocardial ischemia through several different pathophysiological and cellular mechanisms acting independently or synergistically: (1) delayed early diastolic relaxation of intramyocardial arterial segment; (2) impaired endothelial-dependent vasodilation with vessel smooth muscle cell hyperactivity in the coronary artery with MB, especially within the bridged segment; (3) focal (septal) ischemia due to “septal steal” phenomenon; and (4) development and progression of an atherosclerotic lesion in the coronary artery segment proximal to MB. Patients with isolated-MB may also experience anginal pain and/or myocardial ischemia due to concomitant structural and/or functional abnormalities of the coronary microcirculation. Both MB and coronary microvascular dysfunction refer to a subgroup of patients with angina and/or ischemia with non-obstructive coronary arteries (ANOCA/INOCA). Therefore, it may be challenging to determine whether MB is causing anginal pain and/or ischemia, particularly since both phenomena have also been reported without MB’s existence. Therefore, comprehensive coronary physiology testing should be encouraged in patients with this coronary anomaly to identify the underlying cause of anginal pain and/or myocardial ischemia, enabling optimal therapeutic strategies in these patients. This review is focused on different pathophysiological and cellular mechanisms of MB-related angina and/or ischemia and future perspectives in the functional assessment of MB severity, bearing in mind the complexity of coronary physiology in the presence of this anomaly. Full article

Background and Objectives: Pancreas divisum (PD) is the most common congenital anomaly of the pancreatic ductal system and has been suggested to contribute to pancreatic pathology. However, its true prevalence and relationship with pancreatic diseases remain debated. This systematic review and meta-analysis aimed to estimate the global prevalence of PD and evaluate its association with pancreatic disease. Materials and Methods: A comprehensive search of Google Scholar, Scopus, and PubMed was conducted to identify studies reporting the prevalence of PD across all populations and diagnostic modalities. Pooled prevalence estimates were calculated using a random-effects model. Between-study heterogeneity was assessed using the I² statistic, and publication bias was evaluated using Egger’s test. Results: A total of 117 studies comprising 193,672 subjects were included. The pooled global prevalence of PD was 11.1% (95% CI: 8.0–14.2%) with substantial heterogeneity (I² = 99.96%). PD prevalence was higher among individuals with pancreatic disease (18.7%) compared with cadaveric/autopsy studies (8.8%), healthy individuals (5.6%), and consecutive patients (4.7%). Both complete and incomplete PD were more common in subjects with pancreatic diseases. Among PD subtypes, type I was the most prevalent. Egger’s test demonstrated significant publication bias (p < 0.01). Conclusions: PD affects approximately one in ten individuals worldwide and appears more prevalent in patients with pancreatic diseases. However, this finding should be interpreted with caution due to potential selection bias from predominantly ERCP-based studies. Full article

Hemoptysis is a potentially life-threatening phenomenon with a wide range of underlying causes. While most episodes are linked to common conditions such as infections, malignancy, or pulmonary embolism, a proportion of cases are due to unusual and often unexpected etiologies. This narrative review summarizes published case reports, series, and observational studies describing rare causes of hemoptysis, including vascular malformations, congenital anomalies, benign tumors, systemic diseases, and unusual infections. These conditions are frequently overlooked, which may delay recognition and appropriate management. The reviewed examples highlight the variety of diagnostic challenges and the broad spectrum of therapeutic strategies that may be required, ranging from endovascular procedures and surgery to targeted medical therapy. Despite advances in diagnostic methods, a subset of patients remain classified as having idiopathic or cryptogenic hemoptysis. For this reason, clinicians should keep a broad differential diagnosis in mind and remain aware of rare but clinically important entities. Awareness of these uncommon presentations and individualized patient management are essential for improving outcomes and avoiding missed critical diagnoses. Full article

Congenital heart disease (CHD) is the most common congenital anomaly worldwide and is associated with substantial infant morbidity and mortality. This narrative review synthesizes evidence linking CHD to alterations in the gut microbiome across neonatal, perioperative, and chronic stages and highlights a gut–heart–immune framework in which microbial imbalance, intestinal barrier dysfunction, and systemic inflammation may interact to influence clinical outcomes. Early infancy represents a potential window for microbiome and immune development, shaped by delivery mode and feeding, with many breastfed infants developing a Bifidobacterium-dominant community supported by human milk oligosaccharides. In CHD, abnormal splanchnic perfusion and hypoxemia, together with intensive care and perioperative exposures (fasting, delayed enteral feeding, antibiotics, acid suppression), may predispose to dysbiosis and impaired barrier function. Cardiac surgery with cardiopulmonary bypass can act as a “second hit,” with evidence of increased gut permeability, endotoxemia, inflammatory activation, and biomarker signals of enterocyte injury and tight-junction disruption. Clinically, these mechanisms align with gut-sensitive outcomes including necrotizing enterocolitis (especially in ductal-dependent lesions), feeding intolerance, and postoperative infection-risk phenotypes. Interventions show mixed evidence: human milk exposure appears protective for NEC risk, synbiotics demonstrated outcome benefits in a randomized trial of cyanotic CHD infants, while probiotics may modify dysbiosis without consistently preventing intestinal injury and require careful safety frameworks. Key research gaps include the need for longitudinal stage-based cohorts, integration of microbiome profiling with barrier injury and perfusion markers, and standardized safety monitoring in intervention trials. Full article

The coarctation of the aorta is a congenital anomaly characterized by a local narrowing of the aortic lumen localized near the ductus arteriosus. Typically diagnosed in childhood, but it can remain until symptoms become evident. This aortic anomaly can also coexist with aortic valve stenosis. In our case report, we present a 46-year-old male with chest pain, dyspnea, and a significant blood pressure gradient between upper and lower extremities. Diagnostic examination included transthoracic echocardiography and computerized tomography. This diagnostic imaging showed narrowing of the aortic lumen with a residual lumen dimension of 3 mm and severe aortic stenosis. The patient underwent a complex surgical procedure, replacement of the aortic valve and reconstruction of the aorta. An extra-anatomic ascending-to-descending aortic bypass was constructed using a 20 mm Dacron graft, combined with mechanical aortic valve replacement. The operation was performed through median sternotomy with two arterial canula in the femoral artery and in the aorta, and one venous canula in the right atrium. Two canulae are placed for the safe performance of cardiopulmonary bypass. The patient was discharged at home without complication. This case highlights that a single surgical procedure may represent a definitive treatment of a complex problem with good short-term results. Full article

Background: Omphalocele is a congenital defect of the anterior abdominal wall frequently associated with additional anomalies that substantially influence neonatal outcomes. Cardiovascular and pulmonary abnormalities are among the most clinically relevant factors affecting survival, yet their relative prognostic contribution remains incompletely characterized in smaller regional cohorts. Methods: This retrospective observational study included 50 neonates with omphalocele treated at a tertiary pediatric surgery center in Northeastern Romania between 2000 and 2025. Demographic characteristics, associated congenital anomalies, surgical management, and clinical outcomes were analyzed. Comparisons were performed between isolated and non-isolated omphalocele cases and according to the presence of cardiac and pulmonary anomalies. Univariate logistic regression was used to evaluate associations between associated anomalies and mortality. Results: Associated congenital anomalies were present in the majority of patients. Cardiac malformations were identified in 68% of cases, pulmonary anomalies in 22%, and combined cardiopulmonary anomalies in 20%. Overall mortality was substantial. Mortality was higher in non-isolated compared with isolated omphalocele, although this difference did not reach statistical significance. Univariate analysis showed that pulmonary anomalies were significantly associated with increased mortality (OR = 4.31, 95% CI: 1.20–15.50, p = 0.025), whereas cardiac anomalies alone were not significantly associated with mortality. Combined cardiopulmonary anomalies were associated with an increased mortality risk without reaching statistical significance. Conclusions: In this cohort, pulmonary anomalies were strongly associated with increased mortality among neonates with omphalocele. These findings suggest that detailed prenatal and postnatal pulmonary assessment may contribute to improved risk stratification and multidisciplinary management in affected neonates. The results should be interpreted in the context of the study’s retrospective design and limited sample size. Full article

Introduction: Meckel’s diverticulum (MD) is the most common congenital anomaly of the gastrointestinal tract, resulting from incomplete involution of the vitelline duct during the fifth to seventh week of gestation. This study aimed to assess the prevalence, anatomical features, clinical manifestations, and heterotopic tissue of MD through a comprehensive meta-analysis of studies reporting on this anomaly. Methods: A systematic search of PubMed, Scopus, ScienceDirect, Web of Science, SciELO, BIOSIS, Current Contents Connect, and the Korean Journal Database was conducted up to March 2024 following PRISMA guidelines. Original studies with extractable data on Meckel’s diverticulum were included, while case reports, reviews, and studies with incomplete data were excluded. Outcomes included prevalence, anatomical features, clinical manifestations, complications, and postoperative outcomes. The study quality was assessed using CATAM and AQUA tools. Results: The results of the present meta-analysis comprised 172 studies. The pooled prevalence of MD was 1.56% (95% CI: 0.98–2.28%). Nausea and vomiting were the most frequent symptoms in the pediatric group, with an incidence of 52.34% (95% CI: 38.59–65.92%). In adults, wound infections or dehiscence or anastomotic leakage were the most common postoperative outcomes, with a pooled prevalence of 6.20% (95% CI: 4.02–8.79%). Conclusions: This systematic review and meta-analysis provide a comprehensive quantitative synthesis of MD characteristics. Symptomatic cases most frequently presented with intestinal obstruction, diverticulitis, and bleeding, each showing distinct age-related trends. Ectopic gastric mucosa was identified in over 40% of pediatric MD. Postoperative outcomes were generally favorable, particularly in elective settings, with low rates of morbidity and mortality. It is hoped that the findings of this study will aid clinicians in diagnosing, risk-stratifying, and managing patients with MD, particularly in guiding surgical decisions for incidentally discovered cases. Full article

Long-gap esophageal atresia is a congenital anomaly that requires challenging repair procedures that are often associated with complications. This work proposes the use of nitinol to repair long-gap esophageal atresia. A first proof-of-concept with commercial nitinol is presented. Experimental tests and simulations were performed, including the application of electrical currents to promote nitinol heating and consequent contraction, tensile tests, chemical analysis, and ex vivo tests using porcine esophageal tissues. A preliminary experiment is also presented regarding NiTi sputtering deposition and the morphological, chemical, and crystallographic analysis of the thin-films, featuring the implementation of a microfabricated solution. The experimental electrical tests were in accordance with the simulations. The nitinol electrical resistance (0.8–1.5 Ω) decreased as its temperature increased (20–60 °C) with the application of electrical current (<1 A), which was consistent with the experimental Seebeck coefficient (6.49 ± 0.46 µV/K). The measured forces (6.5 N at 45 °C) are also in accordance with traction sutures. Chemical analysis revealed a passive titanium dioxide layer reported for nitinol. Regarding the ex vivo tests, the average nitinol final length was 28.5 mm, below 30 mm (threshold for long-gap esophageal atresia). Finally, preliminary results from NiTi sputtering confirmed well-controlled deposition and the viability of scaling this approach, opening new avenues for nitinol-based biomedical devices. Full article