Search Results (443)

This study assessed the effects of dietary honeycomb supplementation on laying performance, intestinal inflammation, ovarian function, and yolk precursor synthesis in laying hens. A total of 320 Dawu Golden Phoenix laying hens (288-d-old) were randomly assigned into four treatment groups with eight replicates of 10 hens each. Hens were provided diets containing 0, 0.5, 1.0, or 2.0 g/kg honeycomb for 30 d. Dietary honeycomb significantly increased average egg weight, average daily feed intake, and laying rate, while decreasing the feed conversion ratio (p < 0.05). It enhanced serum antioxidant capacity, as reflected by higher GSH, SOD, and CAT activity (p < 0.05). Meanwhile, honeycomb modulated the expression of Nrf2/Keap1 pathway-related genes, accompanied by increased expression of downstream antioxidant-related genes. Additionally, honeycomb downregulated intestinal inflammatory- and apoptosis-related factors (p < 0.05), which effectively alleviated intestinal inflammation responses. In the liver, honeycomb showed favorable histological changes, including fewer lipid droplets and less vacuolar degeneration. Furthermore, it decreased serum ALT, AST, and TG levels and promoted yolk precursor synthesis by upregulating genes associated with lipid transport and vitellogenesis (p < 0.05). In the ovary, honeycomb optimized ovarian morphology and follicle development; elevated serum FSH, E2, and MLT levels; and enhanced the expression of steroidogenesis-related genes (p < 0.05), thereby promoting steroid hormone synthesis and reducing follicular atresia. In conclusion, dietary honeycomb supplementation could maintain intestinal health, modulate hepatic and ovarian metabolism functions, promote yolk precursor synthesis, improve follicle development, and consequently, enhance the laying performance of hens. Full article

Background and Clinical Significance: Choanal atresia is a rare congenital obstruction of the posterior nasal aperture, with an estimated incidence of one in 5000 to one in 8000 live births. Bilateral disease typically presents as a neonatal emergency, whereas unilateral disease is more frequent and may remain undiagnosed for years or decades, presenting in adolescence or adulthood with chronic unilateral nasal obstruction and ipsilateral mucopurulent rhinorrhoea. Optimal surgical management remains debated, particularly with regard to mucosal-flap reconstruction and the choice of postoperative stent. Case Presentation: A 22-year-old male was referred for chronic left-sided nasal obstruction, persistent ipsilateral mucopurulent rhinorrhoea and reduced ipsilateral olfaction. Nasal endoscopy and high-resolution computed tomography demonstrated an isolated, non-syndromic, mixed bony–membranous left choanal atresia. The patient underwent transnasal endoscopic choanoplasty with posterior septectomy and removal of the atretic plate and posterior vomer. An ipsilateral superiorly based septal mucoperichondrial flap was raised first and later transposed over the sphenoid rostrum; following drilling, the contralateral septal mucosa was approached and incised horizontally to generate a superior and an inferior leaflet, which were rotated to cover the corresponding portions of the residual posterior septal ridge. A bioabsorbable mometasone-furoate-eluting sinus implant (PROPEL^®, Medtronic) was deployed across the neo-choana. The follow-up endoscopy at two months demonstrated a widely patent, well-mucosalized neo-choana with complete resolution of symptoms. Conclusions: Transnasal endoscopic posterior septectomy combined with mucosal-flap reconstruction and a bioabsorbable steroid-eluting stent is a technically feasible and biologically rational approach to adult unilateral CA. To our knowledge, this is among the first reports describing the off-label intraoperative use of a PROPEL^® stent in a young adult with isolated unilateral choanal atresia. Full article

Bronchial atresia (BA) is a rare congenital anomaly that develops as a consequence of an intrauterine bronchial artery insult. Distal to the atresia, a mucocele can form with consecutive hyperinflation of the peripheral lung parenchyma. We describe an asymptomatic patient with a well-demarcated segmental emphysematous area within the right lower lobe revealed by computed tomography (CT). Here, the right lateral basal segmental bronchus (B9) is proximally interrupted while the distal, mucus-filled bronchus forms a bronchocele. The down-stream segmental parenchyma is hyperinflated. 3D reconstruction of the tracheobronchial tree reveals a normal architecture of the tracheobronchial tree except for the characteristic discontinuation of the right ninth bronchus. Asymptomatic patients with BA do not require treatment, however, follow-up CT is recommended to assess stability of the segmental hyperinflation. Full article

Pediatric congenital right heart obstructive lesions encompass a spectrum of diseases that obstruct blood flow from the right atrium to the pulmonary artery. Right ventricular inflow obstructions include tricuspid valve abnormalities, such as Ebstein anomaly, tricuspid valve dysplasia, and tricuspid atresia. Right ventricular outflow obstructions include pulmonary valve stenosis, pulmonary atresia, and tetralogy of Fallot. Cardiac computed tomography angiography (CCTA) is a valuable tool for the diagnosis, treatment planning, and follow-up of these lesions. In this pictorial review, we highlight the diagnostic utility of CCTA in congenital right heart obstructive lesions, emphasizing its role in preoperative planning. Full article

Background: It is rare in clinical practice to encounter a common arterial trunk when the ventricular septum is intact. In this setting, other clinical diagnoses, such as hypoplastic left heart syndrome with aortic atresia, may be mistaken for a common arterial trunk. Data for this combination is largely limited to case reports and small case series. We have conducted a systematic review of reported cases, performing cluster analyses to provide an objective grouping of the cases. Methods: A systematic review of the literature was performed to identify cases of a common arterial trunk with an intact ventricular septum. Cases for which individual data were available were included in the final analyses. Cluster analysis using K-means clustering was conducted to provide an objective grouping of the hearts based on morphologic findings. Results: K-means clustering identified three distinct groups among hearts with a common arterial trunk with intact ventricular septum. The commitment of the common ventriculo-arterial junction to the left, right, or both ventricles was the defining feature of each group. Hearts with a common trunk committed to one of the ventricles demonstrated significant hypoplasia or atresia of structures related to the other ventricle. Conclusions: Distinct patterns can be identified when a common arterial trunk is found with an intact ventricular septum. They depend on the ventricle or ventricles, which support the common ventriculo-arterial junction. Full article

Biliary atresia (BA) is the leading indication for pediatric liver transplantation. In the absence of surgical treatment, BA progresses rapidly toward hepatic fibrosis and cirrhosis. Although liver biopsy remains the gold standard for histological evaluation, its utility is limited by invasiveness, associated risks, and sampling variability. These limitations have spurred the development and validation of noninvasive tools to evaluate liver fibrosis in this patient population. Multiple imaging techniques have been developed to assess liver fibrosis and cirrhosis. In recent years, additional BA-related biomarkers have been identified, showing significant potential for diagnosis, assessment of fibrosis severity, and prediction of native liver survival outcomes. This article reviews the roles and potential clinical applications of the following biomarkers: matrix metalloproteinase-7 (MMP-7), fibroblast growth factor 19 (FGF-19), interleukin-33 (IL-33), clusterin, and osteopontin. Further research is needed to confirm the utility of these prognostic biomarkers in predicting and improving outcomes in BA. Full article

Background and Clinical Significance: Biliary atresia (BA) and Alagille syndrome (ALGS) represent distinct anatomic and genetic causes of neonatal cholestasis. Their overlapping clinical, biochemical, and early histological features present a formidable diagnostic challenge in early infancy, and their simultaneous coexistence is exceedingly rare. This report documents a unique case of dual diagnosis to highlight the associated diagnostic pitfalls and implications for surgical management. Case Presentation: We present the case of a Taiwanese male neonate who manifested prolonged jaundice and acholic stools. Preoperative imaging and intraoperative cholangiography confirmed biliary atresia, for which the patient underwent a Kasai portoenterostomy. The patient subsequently exhibited an atypical postoperative course characterized by persistent hyperbilirubinemia and intractable pruritus. This atypical trajectory prompted an extensive, multisystem evaluation and molecular genetic analysis, revealing a concurrent genetic diagnosis of Alagille syndrome. To our knowledge, this dual diagnosis is rarely reported in the literature, which creates a significant challenge in determining surgical candidacy and predicting long-term liver health outcomes. Discussions: Early differentiation is complicated by the fact that some ALGS patients can initially mimic BA. Beyond its exceptional rarity, this case holds profound clinical significance for the evaluation of neonatal cholestasis, serving as a stark reminder of the risks of “diagnostic premature closure.” In diagnostically challenging cases of neonatal cholestasis, intraoperative biliary exploration remains the gold standard for the timely diagnosis of BA. Genetic testing should be considered an adjunctive tool when clinical and histological findings are inconclusive. Conclusions: This case highlights a critical clinical caveat in neonatal cholestasis: while a confirmed diagnosis of anatomical BA typically stands alone as a solitary pathology, clinicians should remain mindful of the remote possibility of a concurrent genetic etiology like ALGS in highly atypical presentations. Persistently unexpected postoperative jaundice or the accumulation of multisystem anomalies should prompt an expansion of the differential diagnosis. Recognizing this rare coexistence is crucial for effective multidisciplinary management, informed surgical decision-making, and accurate genetic counseling. Full article

Background: Esophageal atresia (EA) is a complex congenital anomaly frequently associated with additional malformations and genetic conditions. Despite advances in prenatal imaging and genomic technologies, establishing an etiologic diagnosis and performing accurate risk stratification remain challenging due to marked clinical and genetic heterogeneity. Methods: We conducted a retrospective cohort study of neonates diagnosed with EA and admitted to a level IIIc neonatal intensive care unit between 2005 and 2024. Prenatal findings, associated anomalies, genetic testing results, mortality, and neurodevelopmental outcomes beyond 12 months were analyzed. Results: A total of 105 neonates were included, of whom 10.5% were diagnosed prenatally. Isolated EA was identified in 55.2% of patients, whereas 44.8% had associated anomalies, most commonly congenital cardiac defects. Clinically relevant genetic findings were identified in 10.5% of the total cohort (23.4% of complex EA cases). These findings reflect a clinically selected subgroup and should not be interpreted as diagnostic yields applicable to unselected populations or as a comparison between testing modalities. Overall mortality was 11.4%. Lower birth weight showed the strongest association with mortality in univariable analyses; however, no independent predictors were inferred due to the limited number of events. All deceased patients had complex malformative conditions and/or extreme prematurity. Among children with follow-up beyond 12 months, 88.5% demonstrated age-appropriate neurodevelopment. Conclusions: EA is characterized by substantial etiologic and phenotypic heterogeneity. Prenatal detection remains challenging, although advances in fetal imaging may improve diagnostic accuracy. A phenotype-guided approach integrating clinical evaluation and genetic testing may support etiologic diagnosis, recurrence counseling, and follow-up planning in selected patients. However, because testing was indication-driven and evolved over time, the reported diagnostic yields should not be generalized to unselected EA populations or interpreted as comparative performance across testing modalities. Full article

Trypanosomiasis remains a major constraint to small ruminant production in sub-Saharan Africa, particularly among smallholder farmers. Although WAD goats are considered trypanotolerant because of their relatively low mortality during chronic infection, recent findings show that this survival is at the expense of reproductive efficiency. To back up this claim with scientific evidence, this review followed PRISMA guidelines and systematically searched PubMed, Scopus, and Web of Science for important studies published between January 1980 and February 2026. Search terms included African animal trypanosomiasis, Trypanosoma spp., WAD goats, reproductive dysfunction, trypanotolerance, oxidative stress, and hypothalamic–pituitary–gonadal axis. Of the 1245 retrieved articles, 14 met the inclusion criteria. Evidence from the included studies indicates that chronic trypanosome infection disrupts reproduction through interconnected mechanisms involving systemic inflammation, oxidative stress, endocrine imbalance, and impaired gonadal function. Available evidence suggests that T. brucei is frequently associated with ovarian dysfunction and embryonic loss, whereas T. congolense has been linked in some studies to uterine pathology and gestational reproductive disturbances. Female goats commonly exhibit irregular oestrous cycles, embryonic loss, and prolonged kidding intervals, while males develop impaired spermatogenesis, abnormal sperm morphology, and reduced testosterone levels. These reproductive impairments reduce kid output, milk yield, herd productivity, and household livelihood resilience. Integrated control strategies combining vector control, targeted chemotherapy, nutritional support, and selective breeding are essential for preserving both fertility and survival in trypanosome-endemic areas. Full article

Background: Laparoscopic duodenoduodenostomy is an established approach for duodenal atresia, yet its applicability in neonates with concurrent situs anomalies remains poorly defined. This study evaluated the feasibility and perioperative outcomes of laparoscopic duodenoduodenostomy in this population. Methods: A retrospective review was conducted of all neonates who underwent laparoscopic repair for duodenal atresia by a single surgeon at Samsung Medical Center between January 2017 and December 2023. Thirteen patients were divided into situs anomaly (n = 3) and situs solitus (n = 10) groups. Anatomical features, operative details, and perioperative outcomes were reviewed and descriptively summarized according to situs status. Results: All three neonates in the situs anomaly group had situs ambiguus—left isomerism with polysplenia (n = 2) or right isomerism with asplenia (n = 1). Interrupted inferior vena cava with azygos continuation and intestinal malrotation were present in all three patients; however, only two required a concurrent Ladd procedure. Laparoscopic repair was completed in all 13 patients without open conversion. Operative time, feeding milestones, and hospital stay were descriptively similar between groups. No anastomotic complications, reoperations, or mortality occurred. Conclusion: In this small case series, laparoscopic duodenoduodenostomy was completed without conversion or perioperative anastomotic complications in neonates with duodenal atresia and concurrent situs anomalies. Situs anomaly alone may not preclude minimally invasive repair in experienced hands. Full article

Cyclophosphamide (CTX)-induced premature ovarian failure (POF) is characterized by disruption of the follicular microenvironment, granulosa-cell loss, endocrine imbalance, and oxidative-inflammatory injury. Here, we evaluated two multi-bioactive formulations developed to enhance ovarian stress resilience: a base formulation containing coenzyme Q10, calcium L-5-methyltetrahydrofolate, and Vitex agnus-castus extract (Base), and a urolithin A-enriched formulation (Base + U). Using a CTX-induced female C57BL/6 mouse model, we integrated phenotypic, histological, endocrine, oxidative-inflammatory, and transcriptional readouts to assess efficacy and mechanistic consistency. CTX markedly reduced ovarian index, disrupted estrous cyclicity, shifted follicle development toward atresia, increased granulosa-cell apoptosis, and caused endocrine dysregulation, including decreased anti-Müllerian hormone and estradiol and increased GnRH, FSH, and LH. CoQ10, Base, and Base + U each partially alleviated these abnormalities, improving ovarian index and coat condition, showing a trend toward improved follicular distribution, and normalizing hormone profiles. CTX also induced an ovarian oxidative-inflammatory shift, as reflected by decreased GSH-Px, increased MDA, and elevated IL-1β, IL-6, and TNF-α, all of which were attenuated by the interventions. Notably, Base + U more effectively reduced lipid peroxidation and TNF-α than Base alone. Consistently, ovarian transcripts related to follicle responsiveness and steroid regulation, including Fshr, Esr1, and Hsd17b2, were restored, whereas hypothalamic qRT-PCR analysis did not reveal robust transcriptional alterations within the intervention window. These findings suggest that the urolithin A-enhanced formulation partially alleviates CTX-induced ovarian dysfunction by suppressing oxidative-inflammatory stress and preserving granulosa-cell and follicle fate. Full article

Background and Aims: This study investigates the feasibility of performing anorectal surgery in neonates in a prone position via epidural anesthesia and sedation without an instrumented airway. Methods: Twenty infants, scheduled for surgery for anorectal malformations, were included in this study. The primary endpoint was the success of the anesthesia method without invasive airway manipulation after skin incision, and secondary endpoints were defined as the need for additional opioids or sedation drugs during the perioperative period. The study was approved by the Ethics Committee of the Medical University of Vienna (ref. 1133/2017—approval date 24 August 2017), and was registered in the German Clinical Trial Register (DRKS ID: DRKS00012683, approval date 15 July 2019, updated 30 July 2020). Results: The primary outcome parameter could be achieved in 95% of the cases, and 85% of the cases could be managed without additional opioids (secondary outcome parameter). Only one infant (5%) needed endotracheal intubation due to laryngospasm during prone positioning. Conclusions: Surgery for infantile anorectal malformations in a prone position is possible with epidural anesthesia and sedation without an instrumented airway. Full article

Background: Hypoplastic left heart syndrome (HLHS) is defined as “a spectrum of congenital cardiovascular malformations with normally aligned great arteries without a common atrioventricular junction, characterized by underdevelopment of the left heart with significant hypoplasia of the left ventricle including atresia, stenosis, or hypoplasia of the aortic or mitral valve, or both valves, and hypoplasia of the ascending aorta and aortic arch”. Without treatment, HLHS is usually lethal in the neonate. Many hypotheses have been advanced to explain the etiology of HLHS; however, no single theory appears to fully explain the phenotypic variability seen in HLHS. Furthermore, many of these theories offer no explanations regarding the precipitating events which lead to the development of HLHS. Objective: This review considers and critically evaluates the strengths and weaknesses of the leading theories proposed to explain the pathogenesis of HLHS—including hemodynamic disturbances, primary myocardial structural defects, valvar malformations, and genetic or epigenetic alterations that may provoke developmental and anatomic abnormalities. After presenting each model, we propose a novel, comprehensive, and data-driven framework which may assist researchers in developing models for the pathogenesis of the various subtypes of HLHS. Methods: Key findings from human fetal imaging, histopathology, genetic studies, and animal models were considered, as well as the hypothetical contribution of each in observed HLHS phenotypes. The rationales for these findings as causal factors initiating individual HLHS patterns, as well as how they might contribute to HLHS in general, were critically analyzed. Results: The flow theory is strongly supported by animal models and in utero interventions that demonstrate the impact of altered hemodynamics on cardiac morphogenesis. However, the flow theory fails to identify initial causes of disturbed flow or related histological features of HLHS like endocardial fibroelastosis. The myocardial and valve-first models suggest an important role in developmental defects, but do not necessarily have a strong experimental basis that provides explanations for how they mediate HLHS. Genetic studies in patients with HLHS have identified several candidate causal mutations. However, such genetic causes of HLHS exhibit incomplete phenotypic penetrance and clinical impact. A multifactorial framework attempts to integrate these diverse mechanisms and may provide the most coherent explanation that can accommodate the heterogeneity and variable presentation of HLHS. Such a framework may identify multiple forces that drive disease but does not provide useful pathways for future research about HLHS. Conclusions: No single hypothesis has fully explained how HLHS is initiated, progresses, and presents with the clinical conditions that are encountered by cardiac surgeons and cardiologists. The most current models suggest that the spectrum of HLHS reflects acomplex interaction between genetic susceptibility, flow-dependent cardiac remodeling, and environmental factors in utero. A multifactorial model integrates these diverse mechanisms and may provide the most coherent explanation for the various phenotypic variations in HLHS. Based on our analysis of the most current data and the strengths and weaknesses of the current theoretical frameworks, we propose a novel research strategy aimed at identifying specific cardiac progenitor cell populations whose dysregulation may represent a unifying explanation for the etiology of the various phenotypes of HLHS. Based on the arguments made throughout this manuscript that evaluate the various genetic, structural, and hemodynamic models of initiation of disease, we believe that the significant phenotypic variability across the spectrum of HLHS (i.e., the different anatomic subtypes for “classic” HLHS) most likely reflects different underlying etiologies and mechanisms. At the very least, it is very likely that the timing of the insult is critical in determining anatomic subtype. Based on the published data and the arguments within this manuscript, it seems naive to think that there is a single unifying mechanism explain all forms of HLHLS. Full article

Microtia–atresia is a rare craniofacial malformation primarily affecting the first and second pharyngeal arches, leading to the deformity of the auricle and atresia of the external ear canal. Its etiology is heterogenous and largely unknown, including both genetic and environmental factors. The HOXA4 gene has been identified as potentially pathogenetic for microtia–atresia in three twin families. A hoxa4a mosaic knockdown zebrafish model was constructed using CRISPR/Cas9. hoxa4a was expressed in the mandible during early development in zebrafish, while the F0 mosaic knockdowns exhibited craniofacial malformations with abnormal chondrocyte morphologies. Specifically, hoxa4a knockdown reduced cranial neural crest cell proliferation while increasing apoptosis, markedly downregulating chondrogenic markers sox9a and col2a1a. Consequently, pharyngeal arch chondrocytes exhibited disorganized arrangement and morphological abnormalities, resulting in mandibular hypoplasia. Our findings provide important insights into the role of hoxa4a in zebrafish mandibular development and the pathology of microtia–atresia caused by HOXA4 gene mutations in humans. Full article

Background: Conjugated hyperbilirubinemia in early infancy is a critical indicator of hepatobiliary dysfunction. Prompt and accurate identification is essential to diagnose cholestatic liver disease (CLD), particularly biliary atresia. Current guidelines define conjugated bilirubin (CB) ≥ 1 mg/dL as abnormal, irrespective of total bilirubin (TB). This study aimed to evaluate whether combining absolute and relative CB thresholds improves diagnostic performance for CLD. Methods: We retrospectively analyzed all infants aged ≤6 months of chronological age with CB ≥ 1 mg/dL admitted to the Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Austria, between January 2004 and February 2025. During that period, 116,104 infants were born at our hospital catchment area; 3119 of these underwent bilirubin fractionation, and 257 infants (0.2% of total births) had a CB ≥ 1 mg/dL and were included in the analysis. Clinical and biochemical data were extracted. Diagnostic performance of the absolute (CB ≥ 1 mg/dL) and in combination with the relative (CB ≥ 20% of TB) thresholds was assessed using receiver operating characteristic (ROC) analysis for the detection of CLD. Results: Among 257 infants, 47 (18%) were diagnosed with CLD. The median age at the time of blood sampling was 18 days (IQR 9–31). The combined criterion (CB ≥ 1 mg/dL and ≥20% of TB) achieved 100% sensitivity and 61.2% specificity (AUC = 0.82, 95% CI 0.79–0.92; p < 0.001). Implementation of the combined cut-off reduced the number needed to screen from 5.5 to 2.7, representing nearly a twofold improvement in diagnostic efficiency. Conclusions: Applying both absolute (≥1 mg/dL) and relative (≥20% of total bilirubin) CB thresholds substantially improves detection of neonatal CLD in early infancy. This combined approach maintains full sensitivity while reducing false positives and unnecessary investigations, thereby enhancing diagnostic efficiency in early infancy. Full article