RASGRP1 Deficiency Associated with Diffuse Mesangial Sclerosis Infantile Nephrotic Syndrome and Epstein-Barr Virus-Induced Hodgkin's Lymphoma.

: RAS guanyl-releasing protein 1 (RASGRP1) deficiency is characterized by immune dysregulation and Epstein-Barr virus (EBV)-related lymphoproliferation. Diffuse mesangial sclerosis is one of the infrequent causes of infantile nephrotic syndrome. : Here, we described a 7-year-old girl who was diagnosed with diffuse mesangial sclerosis at 5 months old and subsequently developed chronic bilateral neck swelling at the age of 3 years.

Identification of novel BCR::ABL1 kinase domain mutation in patients with chronic myeloid leukaemia and imatinib resistance.

Introduction: The emergence of mutations in the BCR::ABL1 kinase domain (KD) impairs imatinib mesylate (IM) binding capacity, thus contributing to IM resistance. Identification of these mutations is important for treatment decisions and precision medicine in chronic myeloid leukaemia (CML) patients. Our study aims to determine the frequency of BCR::ABL1 KD mutations in CML patients with IM resistance.

Genetic architecture of Multiple Myeloma and its prognostic implications - An updated review.

Multiple myeloma (MM), a clonal B-cell neoplasia, is an incurable and heterogeneous disease where survival ranges from a few months to more than 10 years. The clinical heterogeneity of MM arises from multiple genomic events that result in tumour development and progression. Recurring genomic abnormalities including cytogenetic abnormalities, gene mutations and abnormal gene expression profiles in myeloma cells have a strong prognostic power.

NeuroPAIN app: Usefulness of a mobile pain application evaluation system for children with cerebral palsy.

Objectives: Children with cerebral palsy (CP) can experience a substantial amount of pain. Effective pain management hinges on precise and prompt assessment. We designed a mobile-based application NeuroPAIN app to monitor pain among children with CP.

The efficacy of vagus nerve stimulation for epilepsy in Malaysia.

Introduction: The first vagus nerve stimulation (VNS) implantation in Malaysia was back in 2000, and the implantation rate increased tremendously since 2019. VNS has been used in patients who had persistent seizures despite epilepsy surgeries or were not candidates for epilepsy surgeries. We aimed to study the efficacy of VNS in Malaysia.

Modified surelift anterior-apical transvaginal mesh for advanced urogenital prolapse: Retrospective surgical, functional and sonographic outcomes at 3 years.

Objective: This study evaluates the outcomes of modified transvaginal mesh (TVM) Surelift in managing advanced pelvic organ prolapse (POP) over a 3-year follow-up period, focusing on surgical success, functional improvement, and sonographic findings.

Methods: A retrospective review was conducted on 99 women who underwent Surelift System surgery for advanced POP Stage III and IV between July 2018 to January 2020. Objective evaluation included Pelvic Organ Prolapse Quantification (POP-Q), multichannel urodynamic (UDS), and introital 2D ultrasonographic measurement.

Prevalence of childhood overweight and obesity in Malaysia: a systematic review and meta-analysis.

The incidence of childhood obesity is increasing worldwide. National surveys in Malaysia have shown similar trends. This review aimed to increase our understanding of the prevalence and associated factors of childhood overweight, obesity, and excess weight in Malaysia.

A challenging case of hemolytic disease of the fetus and newborn (HDFN) due to anti-Ku in a K (Kell) mother.

Hemolytic disease of the fetus and newborn (HDFN) due to an antibody in the Kell blood group system can be associated with severe fetal anemia. This case report details the challenges of managing a Kell mother with anti-Ku that affected her fetus/newborn. A gravida 4 para 3 woman at term underwent an emergency lower caesarean section because of fetal distress.

What maximal urethral closure pressure threshold predicts failure of mid-urethral sling surgery?

Objective: Low Maximal Urethral Closure Pressure (MUCP) is linked to unfavourable outcome of anti-incontinence surgery, however the cut-off value varied within studies. This study aimed to predict the cut-off value of MUCP that contributes to poor outcome of Mid-Urethral Sling (MUS) surgery in Urinary Stress Incontinence (USI) patients.

Materials And Methods: Records of 729 women underwent MUS procedure from January 2004 to April 2017 reviewed.

Single incision mini sling for the treatment of urodynamic stress incontinence: Surgical outcomes and preoperative predictors of failure.

Objective: To evaluate the surgical outcomes and predictors of failure of Single Incision Mini Sling (Ophira) in women with urodynamic stress incontinence.

Materials And Methods: Records of 115 women underwent anti-incontinence procedure using Ophira Mini Sling from June 2019 to September 2020 reviewed. Subjective evaluation was assessed using validated IIQ-7, UDI-6, POPDI-6 and PISQ-12 questionnaires.

Intradyadic Correlation Between Parent-reported and Child-reported Quality of Life in Patients With Anorectal Malformation and Hirschsprung's Disease in Comparison to Healthy Controls.

Background: Quality of life (QOL) is an important clinical endpoint in paediatric chronic conditions. How parent-proxy reports differ from child self-reported QOL in patients with anorectal malformation (ARM) and Hirschsprung's disease (HD) has not been well examined to date. This study evaluates agreement between parent-proxy and child-reported QOL scores in ARM and HD patients compared to healthy controls.

The linguistic and construct validity of the Malay version of the Coping Self-Efficacy Scale (CSES-My): Evidence from a sample of Malaysian parents of children with leukemia or lymphoma.

Background: Parents of children with hematological cancers such as leukemia and lymphoma need to cope with stress related to their child's diagnosis. The Coping Self-Efficacy Scale is a widely used and validated tool to measure an individual's confidence in dealing with stressful situations. Appropriate translation and validation are needed to produce a localized language version suitable for Malaysian contexts.

A prospective multicentre study evaluating the performance of the modified simple biliary atresia scoring system in predicting biliary atresia.

Purpose: Early diagnosis of biliary atresia (BA) is critical for best outcomes, but is challenged by overlapping clinical manifestations with other causes of obstructive jaundice in neonates. We evaluate the performance of the modified Simple BA Scoring System (SBASS) in diagnosing BA.

Methods: We performed a prospective, cross-sectional study on infants with cholestatic jaundice (June 2021-December 2022).

A multi-center cross-sectional comparison of parent-reported quality of life and bowel function between anorectal malformation and Hirschsprung's disease patients with versus those without Down syndrome.

Purpose: Down syndrome (DS) is a common abnormality associated with anorectal malformation (ARM) and Hirschsprung's disease (HD). However, quality of life (QOL) in ARM and HD patients with DS is under-researched. This study compares parent-reported QOL and bowel function in ARM and HD patients with DS to those without.

Clinical and economic impact of medication administration errors among neonates in neonatal intensive care units.

Despite efforts in improving medication safety, medication administration errors are still common, resulting in significant clinical and economic impact. Studies conducted using a valid and reliable tool to assess clinical impact are lacking, and to the best of our knowledge, studies evaluating the economic impact of medication administration errors among neonates are not yet available. Therefore, this study aimed to determine the potential clinical and economic impact of medication administration errors in neonatal intensive care units and identify the factors associated with these errors.

Lung-Protective Ventilation for Pediatric Acute Respiratory Distress Syndrome: A Nonrandomized Controlled Trial.

Objectives: Despite the recommendation for lung-protective mechanical ventilation (LPMV) in pediatric acute respiratory distress syndrome (PARDS), there is a lack of robust supporting data and variable adherence in clinical practice. This study evaluates the impact of an LPMV protocol vs. standard care and adherence to LPMV elements on mortality.

Short-term Non-invasive Ventilation for Children with Palliative Care Needs.

Objectives: Non-invasive ventilation (NIV), namely continuous positive airway pressure (CPAP) and bi-level positive airway pressure (BiPAP), delivers mechanical ventilation without endotracheal intubation. Short-term NIV (planned for <21 days during initiation) can be used for the management of acute respiratory distress (ARD) among paediatric palliative patients with "Do Not Resuscitate or Intubate" (DNI) as the ceiling of care. This study aimed to describe the usage of short-term NIV among paediatric palliative patients in a woman and child hospital with a paediatric palliative subspecialty.

The properties of absorbable scaffold harvested with human amniotic fluid stem cells on rat model: an innovation for pelvic reconstruction surgery.

The current practice of restoring the anatomical structure in the treatment of pelvic floor dysfunction includes implantation of synthetic sling, which carries potential complications. This study aimed to develop biological substitutes to improve tissue function using scaffolds as a support to the host cells, through formation of new tissue. Human amniotic fluid stem cells (hAFSCs) were seeded on synthetic mesh-scaffold of AlloDerm Regenerative Tissue Matrix (RTM), Poly-DL-lactico-glycolic acid (PLGA) mesh (VICRYL) and Polydioxanone (PDS) meshes.