1.Serum Levels of Wnt/β-catenin Pathway Regulators Dkk-1, PORCN, Notum, and Tiki-1 in Children with Autism Spectrum Disorder
Fatma COŞKUN ; Ayşegül Tuğba Hira SELEN ; İbrahim KILINÇ ; Ahmet Osman KILIÇ
Clinical Psychopharmacology and Neuroscience 2026;24(1):84-92
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.
2.Interobserver Agreement of Filling Cystometry Parameters in Children With Neurogenic Lower Urinary Tract Dysfunction
Yunus Emre GENC ; Faruk ARSLAN ; Onur Can OZKAN ; Osman AKYUZ ; Raziye ERGUN ; Ahmet Ozgur GUCTAS ; Selcuk YUCEL ; Kamil CAM ; Tufan TARCAN ; Cagri Akin SEKERCI
International Neurourology Journal 2026;30(2):155-162
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.
3.Spontaneous Ileal Perforation in a Case of Neutropenic Enterocolitis Managed Laparoscopically
Ivan Khor Ee Ho ; Azrina Syarizad Khutubul Zaman ; Faizah Mohd Zaki ; Marjmin Osman
Journal of Surgical Academia 2026;16(1):15-18
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.
4.Epidemiology of Human Entamoeba histolytica Intestinal Infection in Malaysia: A Systematic Review and Meta-Analysis
Genasan D. ; Rajamanikam, A. ; Azzani M. ; Osman E. ; Subramaniyan V. ; Nazmi N.N.M. ; Rahim N.S.A. ; Khalip N.M.A. ; Azman N.A.A.N. ; Kumarasamy V.
Tropical Biomedicine 2026;43(No. 1):103-111
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.
5.Starved Bones, Failing Heart: Uncommon Yet Life Threatening Hypocalcemic Cardiomyopathy in Nutritional Rickets
Siti Nur Hanim Najwa binti Sheikh Osman ; Sze Teik Teoh
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):142-143
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
6.Delayed Aneurysm Rupture Following Endovascular Treatment with Contour Device: A Case Report
Osman KOC ; Mostafa MAHMOUD ; Ehab MAHMOUD ; Ali AYYAD ; Ahmad OWN
Neurointervention 2025;20(1):24-27
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.
7.Hemodynamic Instability during Squid Embolization of Dural Arteriovenous Fistula: A Case Report
Ehab MAHMOUD ; Osman KOC ; Mostafa MAHMOUD
Neurointervention 2025;20(1):28-31
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.
8.Origin and branching pattern of the iliohypogastric and ilioinguinal nerves and their exits in relation to the psoas major muscle: a cadaveric study
Bijo ELSY ; Waad Hassan Mohammad ASIRI ; Lina Eltag Sir Elkhatim OSMAN ; Mansour Abdullah Saeed ALGHAMDI
Anatomy & Cell Biology 2025;58(1):14-21
This study aims to determine the level of origin, branching pattern and exits of the iliohypogastric and ilioinguinal nerves in relation to the psoas major muscle. Additionally, this study confirms the presence and retroperitoneal courses of the double nerves. We dissected a total of 24 iliohypogastric and ilioinguinal nerves (6 male and 6 female cadavers). The origin, branching, and exits in relation to the psoas major muscle, the absence of these nerves or the presence of double nerves, and their retroperitoneal course were carefully examined. All the images were recorded by photographing. In this study, we mainly observed variations in exits, branching patterns, and their retroperitoneal course. The iliohypogastric nerve was absent in 2 cases (8.3%). In the type I pattern, in 1 case (4.2%), the common trunk descends anteriorly to the iliac vessels from the iliolumbar vessels. In 4 cases (16.7%), the double ilioinguinal nerve with different branch patterns and retroperitoneal courses was observed. In 1 single nerve case (4.2%), the ilioinguinal nerve descends anterior to the iliac vessels from the iliolumbar vessels. To our knowledge, the branching pattern of the double ilioinguinal nerves and their retroperitoneal course have not been reported in any available data. Sound knowledge of the variations in the origin, branches, and retroperitoneal course of the iliohypogastric and ilioinguinal nerves is very helpful for the improvement of peripheral nerve blocks and other various surgical procedures to avoid complications and nerve injuries.
9.Delayed Aneurysm Rupture Following Endovascular Treatment with Contour Device: A Case Report
Osman KOC ; Mostafa MAHMOUD ; Ehab MAHMOUD ; Ali AYYAD ; Ahmad OWN
Neurointervention 2025;20(1):24-27
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.
10.Hemodynamic Instability during Squid Embolization of Dural Arteriovenous Fistula: A Case Report
Ehab MAHMOUD ; Osman KOC ; Mostafa MAHMOUD
Neurointervention 2025;20(1):28-31
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.


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