Objective: Dysregulation of the Wnt/β-catenin signaling system has been increasingly associated with the pathogenesis of autism spectrum disorder (ASD). Nevertheless, regulators of this system remain unexamined in patients with ASD. This study aimed to examine serum concentrations of Dkk-1, PORCN, Notum, and Tiki-1 in preschool children with ASD. Methods: A total of 60 children diagnosed with ASD and 50 healthy controls, aged 18 to 60 months, were included in the study. Serum levels of the target molecules were quantified utilizing enzyme-linked immunosorbent assay kits. Autism severity and behavioral traits were evaluated utilizing the Childhood Autism Rating Scale (CARS) and the Autism Behavior Checklist (AuBC). Results: Serum concentrations of Dkk-1 and PORCN were significantly higher in the ASD group relative to controls. However, no significant difference for serum Notum and Tiki-1 levels was detected between the groups. Correlation analyses revealed significant positive associations between serum PORCN, Notum, and Tiki-1 levels and multiple AuBC subscale and total scores. No significant correlations were found between any of the molecules and CARS scores. Conclusion These data indicate that regulators of the Wnt/β-catenin pathway, notably Dkk-1 and PORCN may play a potential role in the pathogenesis of ASD. This study presents new data confirming the significance of Wnt/β-catenin pathway regulators in ASD and underscores the necessity for further research.

Purpose: Urodynamic studies (UDS) are the gold standard for evaluating pediatric lower urinary tract dysfunction (LUTD). However, previous studies have shown that the interpretation of cystometric findings may vary according to the observer’s level of experience and the criteria used for evaluation. This study aimed to investigate interobserver differences in the reporting of cystometric parameters in children with spina bifida. Methods: Patients who underwent UDS between 2020 and 2025 for neurogenic LUTD secondary to spina bifida were retrospectively reviewed. Studies that did not reach 80% agreement for compliance with good urodynamic practice standards were excluded. Detrusor overactivity (DOA) and bladder compliance were independently evaluated by 4 pediatric urologists and 3 urologists experienced in neuro-urology. Agreement was assessed using Fleiss’ kappa test. Results: A total of 100 children, including 53 females and 47 males, were included; the median age was 6.5 (range, 1–17) years. Agreement of at least 80% was reached in 86% of evaluations for DOA and 82% of evaluations for compliance. Based on the ratings of 7 observers, the Fleiss’ kappa value was 0.60 for DOA, indicating moderate agreement, and 0.46 for bladder compliance, indicating weak agreement. Conclusions This study demonstrated substantial interobserver variation in the interpretation of UDS, even among experienced centers and observers. Because UDS are essential for the diagnosis, treatment, and follow-up of patients with spina bifida, standardized criteria are needed to improve interobserver consistency in this patient group. Multicenter prospective studies involving observers with varying levels of experience are warranted to improve concordance in UDS reporting.

Introduction: We report an insidious presentation of hypocalcemic dilated cardiomyopathy (HDCM) in an infant with nutritional rickets and severe hypocalcemia, highlighting the myocardium’s strict reliance on calcium-phosphate homeostasis. Case: A 3-month-old, small-for-gestational-age male (birth weight: 1.93 kg), with congenital cataracts and persistent neonatal cholestasis (negative hepatopathy and congenital infection screens) presented acutely with post-feeding cyanosis, requiring intubation for aspiration pneumonia. The mother denied prior apneic episodes, seizures, feeding difficulties, or heart failure symptoms. Clinically, there was no murmur or hyperactive pericardium. Chest radiograph revealed globular cardiomegaly. Echocardiography confirmed HDCM (LVEF 41%). Bloodwork revealed profound hypocalcemia (1.16 mmol/L; normal 2.1–2.6), hyperphosphatemia (2.97 mmol/L), and markedly elevated alkaline phosphatase (2,411 IU/L). 25(OH)D3 was deficient (34.08 nmol/L). Secondary hyperparathyroidism (iPTH 19.55 pmol/L) represented an appropriate response. The mother had introduced goat’s milk instead of cow’s milk due to inadequate lactation. She took no supplements during pregnancy and was also vitamin D deficient. Management included IV calcium gluconate, targeted antifailure therapy (captopril, furosemide, spironolactone), and mechanical ventilation. High-dose cholecalciferol replenished depleted stores, alongside an active vitamin D analog (alfacalcidol) to bypass impaired hepato-intestinal pathways, stimulating calcium absorption. Extubated after 2 weeks with stabilized serum calcium, he was discharged on anti-failure therapy, oral calcium carbonate (54 mg/kg/day elemental), D-cure 25,000 IU 4-weekly, Ursodeoxycholic acid (45 mg 12-hourly), and multivitamins. Repeat echocardiography is planned at 3 months. Conclusion This case underscores the vulnerability to nutritional rickets and late-onset hypocalcemia in SGA infants with inadequate maternal nutrition and impaired GI absorption. The calcium-phosphate axis is easily disrupted; highphosphate substitutes (goat’s milk) precipitously unmask hypocalcemia, overwhelming compensatory hyperparathyroidism. Proactive, dual-therapy metabolic supplementation is paramount to avert catastrophic, yet reversible, HDCM.
Cardiomyopathies ; Rickets

Spontaneous Ileal Perforation in a Case of Neutropenic Enterocolitis Managed Laparoscopically Neutropenic enterocolitis (NE) or ‘typhlitis’ is a serious condition. It is commonly associated with malignancy, intensive chemotherapy and severe neutropenia. The decision for surgery remains a clinical dilemma. We present a case of NE with ileal perforation that underwent laparoscopic small bowel resection and ileostomy. An 11 years old boy diagnosed with acute lymphoblastic leukemia, was receiving induction chemotherapy. He developed neutropenic fever which was treated with antibiotics. He subsequently experienced lower abdominal pain predominately at the right iliac fossa radiating to the suprapubic region. Abdomen examination revealed tenderness over the right iliac fossa with localised guarding. Chest X-ray erect showed no air under diaphragm. Ultrasound abdomen showed presence of minimal free fluid in the abdomen. A computed tomography abdomen was performed, which revealed evidence of pneumoperitoneum predominantly at the dependent areas of the abdomen. There was a focal defect seen at the anterior wall of distal ileum with connection with a fluid locule, suspicious of ileal perforation. The patient subsequently underwent an urgent laparoscopic small bowel resection and double barrel ileostomy. Intraoperatively, there was a 1 x 1 cm perforation at the distal ileum about 3 cm from ileocaecal junction with localised contamination. Postoperatively, the patient gradually recovered and was discharged. NE is a potentially life-threatening condition associated with high mortality. Contrary to belief, surgery in neutropenic patients is not deleterious, especially in complicated NE. Prompt and accurate decision-making holds an important role in improving patient outcomes.

Entamoeba histolytica (E. histolytica) is a protozoan parasite that causes amoebiasis in humans. It is prevalent in developing countries, particularly in areas with inadequate sanitation and limited access to clean water. While some data on the infection in the Malaysian population is available, comprehensive data on the overall prevalence is lacking. Our study aimed to determine the prevalence of E. histolytica in Malaysia through systematic review and meta-analysis using data published up to 2025. Fourteen studies covering diverse population groups from various states in Malaysia, including rural and urban residents, schoolchildren, indigenous communities, and high-risk populations were reviewed. We found an overall pooled prevalence of 7% with high heterogeneity (I² = 92.5%). Prevalence varied widely by state and population subgroup, with higher rates in Pahang (18%) and among aboriginal schoolchildren (16%). Lower prevalence was found among urban residents (2%) and patients with gastrointestinal disorders (2%). There was only a slight difference in prevalence between individuals with co-infections (8%) and those without (7%). Studies using microscopy showed higher prevalence (7%) than molecular methods (4%). This is likely due to the misidentification of non-pathogenic Entamoeba species as E. histolytica when using microscopy. These findings contribute to a better understanding of the epidemiology of E. histolytica intestinal infection in Malaysia. Although the overall prevalence is relatively low, the results highlight the need for continued surveillance and more accurate diagnostic approaches to support targeted control.

Renal ischemia-reperfusion injury (IRI) is a major contributor to acute kidney injury (AKI), leading to substantial morbidity and mortality. Spexin (SPX), a 14-amino acid endogenous peptide involved in metabolic regulation and immune modulation, has not yet been studied in the context of chronic treatment and renal IRI. This study evaluated the effects of exogenous SPX on renal function, histopathological changes, and molecular pathways in both IRI-induced injured and healthy kidneys. Twenty-eight male BALB/c mice were divided into four groups: control, SPX, IRI, and SPX+IRI. IRI was induced by 30 minutes of bilateral renal ischemia followed by 6 hours of reperfusion. Renal injury markers, histopathological changes, inflammatory mediators, apoptotic markers, and fibrosis-related proteins were analyzed. SPX significantly exacerbated IRI-induced kidney injury by activating the Wnt/β-catenin signaling pathway and promoting the upregulation of pro-inflammatory, pro-apoptotic, and pro-fibrotic mediators. It is noteworthy that SPX exerted more severe deleterious nephrotoxic effects in the healthy kidney compared to those observed in the IRI-induced injured kidney. These findings indicate that chronic treatment with SPX administration may have intrinsic pro-inflammatory, pro-apoptotic and fibrotic properties, raising concerns about its therapeutic potential. Further research is needed to clarify its physiological role and therapeutic implications in kidney diseases.
Animals ; Reperfusion Injury/chemically induced* ; Male ; Mice, Inbred BALB C ; Mice ; Acute Kidney Injury/metabolism* ; Kidney/blood supply* ; Peptide Hormones/adverse effects* ; Apoptosis/drug effects* ; Wnt Signaling Pathway/drug effects* ; Disease Models, Animal

Delayed rupture of intracranial aneurysms after endovascular treatment is a rare but serious complication. We report the first documented case of late aneurysmal rupture following treatment with a Contour intrasaccular device. A patient in their 60s with a basilar tip aneurysm underwent endovascular treatment using a 14-mm Contour device. Fifteen months later, the patient presented with a fatal intraventricular hemorrhage, and imaging revealed device displacement and aneurysm growth. This case underscores the importance of meticulous device sizing and follow-up, especially for large aneurysms.

There are few documented cases of bradycardia or asystole occurring during Onyx embolization of intracranial dural arteriovenous fistulas (DAVFs), although these events are more commonly observed in open neurosurgical procedures, particularly those involving the skull base. We present a case treated for a ruptured paramedian occipital DAVF. During the administration of Squid into the middle meningeal artery, while balloons were inflated in the large occipital arteries bilaterally to control the flow during embolization of the DAVF, the patient experienced an abrupt episode of sinus bradycardia, which recurred after a second injection of Squid. After temporarily halting the injections and deflating the balloons, a third injection was successfully administered without complications, allowing total exclusion of the fistula.

Delayed rupture of intracranial aneurysms after endovascular treatment is a rare but serious complication. We report the first documented case of late aneurysmal rupture following treatment with a Contour intrasaccular device. A patient in their 60s with a basilar tip aneurysm underwent endovascular treatment using a 14-mm Contour device. Fifteen months later, the patient presented with a fatal intraventricular hemorrhage, and imaging revealed device displacement and aneurysm growth. This case underscores the importance of meticulous device sizing and follow-up, especially for large aneurysms.

There are few documented cases of bradycardia or asystole occurring during Onyx embolization of intracranial dural arteriovenous fistulas (DAVFs), although these events are more commonly observed in open neurosurgical procedures, particularly those involving the skull base. We present a case treated for a ruptured paramedian occipital DAVF. During the administration of Squid into the middle meningeal artery, while balloons were inflated in the large occipital arteries bilaterally to control the flow during embolization of the DAVF, the patient experienced an abrupt episode of sinus bradycardia, which recurred after a second injection of Squid. After temporarily halting the injections and deflating the balloons, a third injection was successfully administered without complications, allowing total exclusion of the fistula.