Simultaneous detection of PNGase and ENGase activities in tissue lysate or cytosol using a simply designed high-mannose-type glycopeptide probe containing an Asn-leu-leu sequence.

Percutaneous Coronary Intervention or Optimal Medical Therapy for Woven Coronary Anomaly (The Multicenter EVOLUTE-WOVEN Study).

Bladder exstrophy and epispadias complex is a rare congenital anomaly with significant medical and psychosocial implications. We employed a dual approach to evaluate the prevalence and risk factors of psychiatric morbidity in bladder exstrophy and epispadias patients, by combining a systematic review with a retrospective national registry study. To evaluate the prevalence and risk factors of psychiatric morbidity in bladder exstrophy and epispadias complex. We conducted a systematic literature review following Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines, including studies on psychiatric disorders or symptoms and quality of life in bladder exstrophy and epispadias patients of all ages. Article quality was assessed using the Newcastle-Ottawa Scale. Prevalence data for psychiatric conditions and scores from psychiatric and quality-of-life questionnaires were extracted. Additionally, all bladder exstrophy and epispadias patients born in Finland 2001-2006 were identified from national registries. A matched and randomized control group without congenital malformations was selected from the same population. We evaluated the prevalence and risk factors for psychiatric diagnoses in this cohort. Of the 3850 retrieved results, 30 studies with 1179 participants were included. The overall prevalence of psychiatric morbidity was 31 %, [95 % CI 17 %-47 %]. Psychiatric morbidity was highest in adolescents, while morbidity in adults was comparable to the general population. In the Finnish cohort, 80 % (n = 16/20) of bladder exstrophy and epispadias patients had a psychiatric diagnosis compared to 26 % (n = 21/80) of the controls (OR 11.2, [95 % CI 3.37-37.4], p < 0.001). The severity of the anomaly, number of surgeries, maternal unemployment, or maternal psychiatric diagnosis were not significantly associated with increased psychiatric morbidity. Bladder exstrophy and epispadias is associated with an elevated risk of psychiatric morbidity. Our dual approach highlights the need for systematic mental health assessment and support in this population.

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital anomaly. Its clinical course is typically severe in infancy, leading to left ventricular ischemia, cardiogenic shock, and high mortality without surgical intervention.We describe a rare case of a 3-year-old girl diagnosed with ALCAPA, showing extensive right-to-left collaterals, preserved left ventricular function, and minimal myocardial injury.

Lisfranc injuries classically result from high-energy trauma, such as motor vehicle accidents or falls from height. However, Lisfranc injuries as a result of low-energy mechanisms are increasingly recognised, especially in the context of sports activities or minor traumas. This case report presents a low-energy Lisfranc injury in a patient with a bipartite medial cuneiform, a rare congenital anomaly that can complicate the diagnosis of foot injuries. Emphasising the importance of recognising congenital foot anomalies in the management of foot trauma, we discuss the diagnostic challenges, treatment strategies and outcomes in the context of this anatomical variation.

Cenani-Lenz syndactyly syndrome (CLSS, OMIM 212780) is a rare autosomal recessive disorder characterized by syndactyly and oligodactyly of the digits, fusion of carpal and tarsal bones, and radioulnar synostosis. Craniofacial anomalies and renal malformations have been reported in approximately half of cases, with variable expression. The condition results from homozygous or compound heterozygous mutations in the LRP4 gene. We identified a consanguineous family with four individuals affected by CLSS, comprising two brothers and their two maternal male cousins. All patients presented with bilateral complex syndactyly, characterized by absent phalanges, reduced and disorganized metacarpals, and cutaneous toe syndactyly. The 2-year-old proband had a horseshoe kidney, whereas his 6-year-old cousin presented with right renal agenesis. None of the patients exhibited growth and developmental delay, cardiac anomalies, or intellectual disability. Based on the clinical suspicion of CLSS, targeted next-generation sequencing of the LRP4 gene was performed. This analysis revealed a biallelic variant, c.3830G>T (NM_002334.3), resulting in the protein change p.Arg1277Leu, which has not been previously described. CLSS is a rare congenital disorder affecting distal limb development and is frequently associated with renal malformations and variable dysmorphic features. In this report, we describe four affected individuals carrying a novel homozygous missense variant in the LRP4 gene, thereby broadening the clinical and genetic spectrum of CLSS and highlighting the pathogenic significance of this newly identified variant.

Coronary artery anomalies (CAAs) are rare congenital abnormalities involving the origin, course, or structure of coronary arteries. While often incidental, some variants have clinical and procedural implications. With the increasing use of computed tomography coronary angiography (CTCA), more anomalies are being detected, yet large-scale data from India remain limited. To evaluate the prevalence, anatomical patterns, and clinical relevance of CAAs over a 12-year period using CTCA at a high-volume tertiary cardiac center in India. In this retrospective study, 20,243 consecutive patients undergoing multidetector CTCA between January 2011 and October 2023 were analyzed. Coronary anomalies were categorized into myocardial bridging (MB) and non-MB types based on Angelini's classification. Each scan was independently reviewed by both a radiologist and a cardiologist. Coronary artery anomalies (CAAs) were identified in 1513 patients (overall prevalence 7.5%), largely driven by myocardial bridging (MB). When MB was excluded, the prevalence of non-bridging anomalies was 0.9% (n = 183), including both isolated and combined cases. Isolated myocardial bridging was the most common finding, identified in 1330 patients (87.9%), predominantly involving the mid-segment of the left anterior descending artery. Isolated non-bridging anomalies were observed in 171 patients, while 12 patients had combined MB and non-MB anomalies. Among non-bridging anomalies, the most frequent included anomalous right coronary artery origin from the left sinus with an interarterial course (26.9%), retroaortic left circumflex artery (9.9%), separate origins of the LAD and LCX (8.8%), and high take-off anomalies (7.6%). Most anomalies were classified according to Angelini's framework, with a small subset remaining unclassified due to atypical anatomical presentations. This 12-year retrospective cross-sectional study represents one of the largest single-center CTCA-based datasets on coronary artery anomalies (CAAs) globally. The findings highlight the utility of CTCA in detecting and characterizing both benign and potentially significant anomalies. The anatomical insights derived from this cohort have direct clinical relevance, aiding interventional cardiologists in procedural planning and risk stratification. Future multicenter studies are warranted to further refine diagnostic algorithms and management strategies across diverse populations.

Kallmann syndrome (KS) is a rare congenital disorder characterized by hypogonadotropic hypogonadism secondary to deficient gonadotropin-releasing hormone (GnRH) secretion, often accompanied by partial or complete anosmia. Deficient GnRH secretion results in decreased levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH), causing impaired sexual development and absent secondary sexual characteristics. Against the backdrop of global expansion in rare disease research, KS has become a core research focus, and a comprehensive bibliometric analysis is required to chart the trajectory, trends, hotspots, and future paths in KS research over the last 15 years. A systematic search of the Web of Science Core Collection (WOSCC) retrieved KS publications from January 1, 2009, to August 18, 2025, employing the search term "Kallmann syndrome" with the language restricted to English and no restrictions imposed on publication types. Data analyses were performed using VOSviewer for visualizing collaborative networks, CiteSpace for bursts and clusters, and R for statistics, to evaluate publication trends, countries, institutions, authors, journals, citations, and keywords. KS publications exhibited steady double-digit annual growth, reaching 508 studies. The U.S. ranked first in publication volume, followed by Switzerland and France. Nelly Pitteloud (Switzerland) and Jacques Young (Paris Public Hospitals) were the most prolific and influential authors. The Journal of Clinical Endocrinology and Metabolism published the largest number of KS-related articles; Harvard University was the leading contributing institution. The most highly cited article, "Expert Consensus: European Consensus Statement on Congenital Hypogonadotropic Hypogonadism-Pathogenesis, Diagnosis and Treatment," was cited 575 times in total. Keywords identified hotspots like GnRH deficiency, hypogonadotropic hypogonadism, anosmia, and genetic mutations (> 30 genes), current research frontiers focusing on molecular pathogenesis and personalized therapies. Our study provided a comprehensive overview of Kallmann syndrome research and showed the development status and scientific trend of Kallmann syndrome through bibliometric analysis from 2009 to 2025. The global volume of publications related to Kallmann syndrome has demonstrated a steady year-on-year increase. Research in this field is predominantly led by European and American countries, and cross-regional collaboration serves as a key driver for further advancement. In summary, these findings provide new perspectives for future relevant research and serve as a valuable reference to guide researchers in subsequent studies.

Management of Liver Transplantation in a Pediatric Patient With Heterotaxy Syndrome and Bradyarrhythmia: A Case Report.

Total colonic aganglionosis (TCA) is a rare but severe congenital disorder that impacts the colon's ability to function properly due to the absence of ganglion cells. Investigating research trends in the diagnosis and treatment of TCA can offer valuable insights into advancements in clinical practices, surgical techniques, and future directions in pediatric gastroenterology. Literatures related TCA were explored through a search in the Web of Science Core Collection (WoSCC) database, spanning the period from 1978 to 2024. Bibliometric analysis and data visualization were conducted using VOSviewer, CiteSpace, and the R package "bibliometrix." A total of 281 articles were analyzed, accumulating over 4,010 citations. The USA led in productivity, with Paris City University as the top institution, and Journal of Pediatric Surgery emerged as the leading journal. Prem, Puri was identified as the most influential author. Current hotspots included genetic mutations, management, clinical guidelines, diagnosis, and pull-through for TCA. Keywords burst analysis showed emerging interests in "diagnosis" (2020-2024), "management" (2022-2024), and "pull-through" (2022-2024). This study presents a bibliometric analysis of TCA, focusing on emerging research trends, influential publications, and global collaborations. The findings identify key advancements in the understanding and treatment of TCA, providing valuable insights for both clinical and basic research in pediatric gastroenterology. Not applicable.

Abstract Gall bladder duplication is a rare congenital anomaly of the biliary system, with an estimated incidence of approximately 1 in 4000–5000 individuals. Although often asymptomatic, it may present with biliary pathology and pose diagnostic and therapeutic challenges. Accurate pre-operative identification is essential to prevent bile duct injury and ensure complete surgical management. Discordant pathology between duplicated gall bladders – such as mucocele in one and cholecystitis in the other – is exceedingly uncommon, with only two similar cases reported in the literature. A 56-year-old male presented with intermittent right hypochondrial pain for 1 month and fever for 3 days. Ultrasonography followed by magnetic resonance cholangiopancreatography (MRCP) revealed a Type II duplicated gall bladder. Imaging showed acute on chronic cholecystitis in one gall bladder and mucocele in the other, indicating discordant pathology. The patient underwent an early laparoscopic cholecystectomy on the day of admission. Due to inflammation in Calot’s triangle, a modified fundus-first approach was used, with division of the gall bladder body above the infundibulum and retrograde identification of both cystic ducts. Both gall bladders were removed safely. The post-operative course was uneventful, and the patient was discharged on post-operative day 3. Duplicated gall bladder is an uncommon anomaly that can complicate surgical management. MRCP is valuable for pre-operative anatomical delineation. In difficult anatomy, a modified fundus-first approach can facilitate safe dissection, and laparoscopic cholecystectomy remains effective.

Quadricuspid aortic valve (QAV) is a rare congenital anomaly. While existing classifications (Hurwitz, Nakamura) describe cusp morphology, they fail to address coronary ostial involvement, a major determinant of surgical risk. We present a 38 year-old woman with severe aortic insufficiency (AI) due to Type 3 QAV (Nakamura classification) who underwent aortic valve replacement. Preoperative echocardiography confirmed four equal cusps. Based on this case and literature review, we developed the University of Illinois at Chicago (UIC) classification system for QAV, focused on the spatial relationship between cusps and coronary ostia. The UIC classification defines four classes: Class 1 (non-ostial involvement, repair feasible), Class 2 (ostial-proximate, complex repair or replacement with coronary protection), Class 3 (ostial-obstructing, replacement with possible reimplantation or CABG), and Class 4 (fenestrated/redundant, risk of dynamic obstruction or embolization). The patient's postoperative course was uneventful, with preserved ventricular function at 8 months. The UIC classification incorporates coronary ostial assessment into QAV management, complementing existing morphological systems and guiding surgical planning. Prospective validation in larger cohorts is warranted.

Obstructed mixed-type total anomalous pulmonary venous connection (TAPVC) is a rare life-threatening congenital heart defect requiring urgent, high-risk surgery. Postoperative care is complex and fraught with complications. Enhanced recovery after surgery (ERAS) is a multimodal, evidence-based approach to optimize perioperative care, yet its application in neonatal cardiac surgery is nascent. A 12-day-old male infant presented with lethargy, poor feeding, and severe respiratory distress (SpO 2 80%-85%), requiring immediate intubation. Examination revealed diminished mental responsiveness and signs of poor perfusion. Obstructed mixed-typeTAPVC with an atrial septal defect, a ventricular septal defect, a patent ductus arteriosus, and severe pulmonary hypertension. The infant underwent surgical correction. Postoperatively, a comprehensive, nursing-led ERAS protocol was implemented. Core interventions encompassed goal-directed fluid therapy, proactive respiratory support to prevent pulmonary hypertensive crises, standardized sedation, early complication surveillance (thrombosis, capillary leak syndrome), and structured early rehabilitation. The infant was successfully weaned from mechanical ventilation on postoperative Day 5, achieved full oral feeding by Day 13, and was discharged on Day 18. This recovery timeline compares favorably to published data for similar complex cases. At the 3-month follow-up, he demonstrated age-appropriate growth and development with no significant cardiac sequelae. A structured, nursing-driven ERAS protocol is a valuable clinical tool to enhance outcomes, accelerate recovery, and reduce complications in high-risk neonatal cardiac surgery. This case affirms the pivotal role of neonatal nurses in perioperative care.

Intralobar pulmonary sequestration and anomalous systemic arterial supply to the basal segment of the lung: A comparative study of clinical features and 3D imaging.

Centronuclear myopathies (CNMs) are rare congenital disorders characterized by muscle weakness, fiber hypotrophy, and organelle mislocalization. Most cases arise from mutations in MTM1 or DNM2, encoding myotubularin and dynamin-2, respectively. DNM2 is a GTPase that binds lipids, oligomerizes around membranes, and mediates fission. We previously showed that DNM2 levels are elevated in MTM1-CNM patients and Mtm1-/y mice, and that normalizing DNM2 rescues disease phenotypes. However, the specific DNM2 functions driving pathology remain unclear. Here, we expressed AAV-delivered WT and DNM2 mutants in WT and Mtm1-/y mouse muscles to disrupt specific DNM2 molecular functions. In WT mice, overexpression of WT DNM2 and most mutants induced CNM-like phenotypes, including reduced force, fiber hypotrophy, and centralized nuclei, consistent with gain-of-function mechanisms. The lipid-binding-defective mutant K562E did not induce disease-like phenotype. In Mtm1-/y mice, K562E mutant markedly improved muscle force, mass, and fiber size, while others failed to rescue. Therefore, we generated Mtm1-/y Dnm2K562E/+ mice, which showed full rescue of survival, motor function, and muscle force, with improved muscle mass, fiber size, and organelle positioning despite persistently elevated DNM2 levels. This study reveals that DNM2 lipid binding, not protein abundance or GTPase activity, drives pathology, and represents the most rational therapeutic target for DNM2 therapy in MTM1-CNM.

Introduction and importance: Patent vitellointestinal duct (PVID) with prolapsed bowel is an extremely rare congenital anomaly. Even rarer is the presentation with orthograde ileal intussusception. Case presentation: We report a 16-day-old neonate with a “Y”-shaped, red, mucosal mass protruding from the umbilicus, resembling a bident horn. Clinical examination revealed a prolapsed loop of ileum through a PVID without signs of obstruction or systemic sepsis. After stabilization with intravenous fluids, antibiotics, and thermal support, the patient underwent emergency laparotomy. Operative findings revealed prolapsed orthograde ileal intussusception through a PVID with unhealthy bowel. Resection of the duct and unhealthy segment was performed, followed by primary ileoileal anastomosis. The postoperative course was uneventful, and the infant remained asymptomatic at 3-month follow-up. Clinical discussion: Complete patency of VID with prolapsed orthograde intussusception is exceptionally rare, especially in neonates. The absence of systemic sepsis despite delayed presentation may be due to partial or intermittent intussusception with preserved bowel perfusion. The bident horn-like umbilical appearance represents a distinct clinical presentation. Surgical management requires prompt resection and anastomosis to prevent complications. Conclusion: This case highlights a unique presentation of PVID with orthograde ileal intussusception. Early recognition and timely surgical management are essential to achieve excellent outcomes, even in resource-limited settings.

Objective: Anomalous left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital anomaly resulting in myocardial ischemia, global left ventricular (LV) dysfunction, and mitral regurgitation (MR). Surgical placement of a pulmonary artery band (PAB) at ALCAPA repair may assist with recovery of patients with severe LV dysfunction. We assessed the outcomes of patients with ALCAPA and severe dysfunction treated with, and without a PAB. Methods: We performed a retrospective analysis of cases presented to our center between January 2007 and December 2023. Baseline and follow-up data were collected from records. Ventricular function was assessed by standardized transthoracic echocardiogram. Results: Twenty-six patients underwent ALCAPA repair at a median age of 4 months (range 19 days-8 years). Surgery was performed by direct coronary reimplantation in all patients. Beginning in 2017, we have placedan adjustable PAB in 5 patients with severe LV dysfunction (<25% ejection fraction [EF]). No patients required mitral valve repair at the time of ALCAPA surgery. Two patients with EF < 25% from the non-PAB group required support with extracorporeal membrane oxygenation (ECMO). In patients with EF < 25% who received PAB, none required ECMO or transplant. Recovery of function was near normal in the patients with EF < 25% plus a PA band, but did not reach normal in those with no PA band. Conclusion: There is marked improvement of MR grade and LV function, and no mortality during a 10-year period in the group with EF > 25%. Patients with EF < 25% treated with a PAB demonstrated an improved trajectory toward EF improvement, achieving normal function earlier than those without PA band. Temporary adjustable PAB may be beneficial in ALCAPA patients with severe dysfunction.

Abstract Nemaline myopathy (NM) is a rare congenital neuromuscular disorder characterised by muscle weakness and the presence of nemaline bodies in muscle fibres. We present a case of an 11-year-old male with mild, non-progressive lower limb muscle weakness, incidentally detected during a routine check-up. Whole exome sequencing identified compound heterozygous pathogenic variants in the nebulin gene (c.9046C&gt;T, p.Arg3016* and c.21417+3A&gt;G), confirming the diagnosis of autosomal recessive NM Type 2. A positive family history in his sister with a milder phenotype was noted. This report highlights the diagnostic approach, genetic considerations and implications for physical activity and rehabilitation in a paediatric patient with a mild phenotype of NM.

Case: A 1-year-old female patient presented for the workup of a cystic abdominal lesion that was first discovered at 6 to 7 months of life. A first CT scan of the abdomen and retroperitoneal space showed a cystic mass localized nearby the left adrenal gland. Based on these results the patient was referred to our clinic. An abdominal multislice computed tomography (MSCT) was performed later, which could separate the diagnoses of splenic cyst and gastric duplication cyst. On serial ultrasound examinations, the lesion progressively increased in size, and surgical management was undertaken. Histopathological examination confirmed the diagnosis of gastric duplication. Conclusion. The multimodal diagnostic approach allows early identification of this rare pathology, aids the differintial diagnosis in atypical gastric duplication localization cases and allows to determine indications for surgical treatment.

HIGHLIGHTS Evolution from suspected gastroschisis (17+1 weeks) to confirmed LBWC at 20 weeks with classic features (thoracoabdominal wall defect, intestinal malrotation, limb anomalies), aligned with a systematic review of 23 studies (155 cases) showing mainly second-trimester ultrasound diagnosis and uniformly poor prognosis. Early diagnostic pathways (2D/3D ultrasound ± Doppler; adjunct MRI/AFP/genetics) sharpen differentiation from gastroschisis/omphalocele and strengthen evidence for prenatal counseling, management (including termination and delivery planning), and postmortem confirmation. ABSTRACT Objective: To report a rare case of Limb-Body Wall Complex (LBWC) and to synthesize current evidence regarding its diagnostic features, clinical presentation, and outcomes through a structured literature review. Case Report: This study integrates a single case report with a structured review of published cases. A 29-year-old gravida 2 para 0 woman at 20 weeks of gestation presented with absent fetal movement and was diagnosed with intrauterine fetal death accompanied by multiple congenital anomalies. Initial antenatal ultrasound at 17 weeks and 1 day suggested gastroschisis; however, subsequent evaluation confirmed LBWC, characterized by thoracoabdominal wall defect, intestinal malrotation, and limb anomalies. Pregnancy termination was performed using misoprostol, and the fetus was delivered vaginally as a stillbirth. Diagnosis was confirmed macroscopically post-delivery. The literature review, conducted in accordance with PRISMA 2020 guidelines using PEOS criteria, identified 23 eligible studies comprising 155 cases. Most diagnoses were established in the first and second trimesters using ultrasound, with adjunctive imaging or genetic testing in selected cases. Across studies, LBWC consistently demonstrated a uniformly poor prognosis, with outcomes including intrauterine fetal demise, termination of pregnancy, or early neonatal death. Common findings included limb agenesis, scoliosis, short or absent umbilical cord, and organ evisceration. Most included studies were of moderate to high methodological quality. Conclusion: LBWC is a rare and lethal congenital anomaly. Early and accurate antenatal diagnosis, particularly through repeated ultrasound evaluation, is essential to guide clinical decision-making, parental counseling, and pregnancy management