Chromosome Translocation t(6; 14) With Different Phenotypes and Segregation Patterns: A Report of Two Cases.

Chromosomal rearrangement can disrupt gene function by interfering with coding sequences or their regulatory regions. The breakpoint in these rearrangements can pinpoint the disease-related gene's location. This paper presents two rare cases of chromosomal rearrangement involving chromosome 6 (6p24-25) and chromosome 14 (14q22-23).

The Key Aspects of Neonatal and Infant Neurological Examination: The Ballard Score, the Infant's Head with Hydrocephalus and Assessment in a Clinical Setting.

The physical examination of the newborn is essential in diagnosing neurological or neurosurgical conditions in the newborn. This article focuses on three clinical assessments of newborns and infants that are especially important if neurological problems are suspected: The Ballard score, the examination of the head in a baby with (suspected) hydrocephalus, and the neurological and developmental evaluation of an infant in an ambulatory setting. A textual description and a link to a video describe each assessment.

Antiseptic solutions for skin preparation during central catheter insertion in neonates.

Background: Central venous catheters (CVC) are associated with potentially dangerous complications such as thromboses, pericardial effusions, extravasation, and infections in neonates. Indwelling catheters are amongst the main risk factors for nosocomial infections. The use of skin antiseptics during the preparation for central catheter insertion may prevent catheter-related bloodstream infections (CRBSI) and central line-associated bloodstream infections (CLABSI).

Short versus long feeding interval for bolus feedings in very preterm infants.

Background: There is presently no certainty about the ideal feeding intervals for preterm infants. Shorter feeding intervals of, for example, two hours, have the theoretical advantage of allowing smaller volumes of milk. This may have the potential to reduce the incidence and severity of gastro-oesophageal reflux.

Haemoglobin Levels in Early Life among Infants with and without Retinopathy of Prematurity.

Retinopathy of prematurity (ROP) is a proliferative retinal vascular disorder attributed to an ischaemic stimulus in preterm infants. Haemoglobin, the main component for oxygen transportation, may be implicated in ROP development. This retrospective study compared the mean weekly haemoglobin levels between infants with and without ROP over the first six weeks of life.

A Randomized Controlled Trial Comparing Two Doses of Caffeine for Apnoea in Prematurity.

Caffeine is the most commonly used methyl xanthine for the prevention of apnoea in prematurity, but the ideal dose was uncertain, until now. This study compared two doses of caffeine for the prevention of apnoea in prematurity. A clinical trial was conducted on 78 preterm infants ≤32 weeks in Neonatal Intensive Care Unit.

Comparison of Mean Platelet Counts in Preterm Infants with and without Retinopathy of Prematurity.

Platelets are a primary source of pro- and anti-angiogenic cytokines. However, the evidence of their role in retinopathy of prematurity (ROP) is controversial. This retrospective study aimed to compare mean weekly platelet counts between infants with and without ROP over the first 6 weeks of life.

The Role of Heme Oxygenase-1 Promoter Polymorphisms in Perinatal Disease.

Heme oxygenase (HO) is the rate-limiting enzyme in the heme catabolic pathway, which degrades heme into equimolar amounts of carbon monoxide, free iron, and biliverdin. Its inducible isoform, HO-1, has multiple protective functions, including immune modulation and pregnancy maintenance, showing dynamic alteration during perinatal periods. As its contribution to the development of perinatal complications is speculated, two functional polymorphisms of the gene, (GT) repeat polymorphism (rs3074372) and A(-413)T single nucleotide polymorphism (SNP) (rs2071746), were studied for their association with perinatal diseases.

Primum Non Nocere.

The coronavirus disease 2019 (COVID-19) pandemic is severe and has not shown any signs of warning up to today. Biotech companies around the world have raced to come up with an acceptable vaccine and recently two mRNA vaccines have received emergency usage authorisation from regulatory bodies in several countries. mRNA vaccines, which consist of a new and revolutionary technology have not been previously tested widely on humans.

Health-Related Quality of Life and Family Functioning of Primary Caregivers of Children with Cerebral Palsy in Malaysia.

Caregiving for children with cerebral palsy (CP) has proved to negatively impact on the physical and psychological well-being of their primary caregivers. The aim of the current study was to examine the overall impact of caregiving for children with CP on the primary caregivers' health-related quality of life (HRQOL) and family functioning, and to identify potential factors associated with primary caregivers' HRQOL and family functioning. The cross-sectional study involved a total of 159 primary caregivers of children with CP with a mean age of 42.

Use of reflective materials during phototherapy for newborn infants with unconjugated hyperbilirubinaemia.

Background: Phototherapy is a well-established effective therapy for treating babies with significant neonatal jaundice. Studies have shown that increasing light intensity will increase its efficiency. A potentially inexpensive and easy way of increasing the intensity of light on the body of the infant may be to hang reflective materials from the sides of phototherapy units.

Randomised controlled trial: Shoulder-umbilicus length versus body weight measurement for optimal endotracheal tube depth estimation in ventilated infants.

Aim: The optimal placement of the endotracheal tube (ETT) in ventilated infants is essential, but birthweight may be not the best parameter to predict it. The aim of this study was a direct comparison of shoulder-umbilical length (experimental group) versus birthweight (control group) as predictor of optimal ETT placement in Malaysian ventilated infants.

Methods: All infants requiring ventilation in the neonatal intensive care unit of a tertiary hospital in Malaysia during the 4-month study period were eligible to enter this randomised controlled trial.

Human albumin infusion for treating oedema in people with nephrotic syndrome.

Background: Oedema is a common clinical symptom in people with nephrotic syndrome and human albumin has been widely used in the treatment of oedema by increasing vascular volume and this inducing diuresis. It may be used with or without diuretics such as furosemide. However, the quantitative contribution of human albumin in treating oedema is not fully understood.

Placebo Controlled Trials: Interests of Subjects versus Interests of Drug Regulators.

The use of placebo-controlled trials in situations where established therapies are available is considered ethically problematic since the patients randomised to the placebo group are deprived of the beneficial treatment. The pharmaceutical industry and drug regulators seem to argue that placebo-controlled trials with extensive precautions and control measures in place should still be allowed since they provide necessary scientific evidence for the efficacy and safety of new drugs. On the other hand, the scientific value and usefulness for clinical decision-making may be much higher if the new drug is compared directly to existing therapies.

Two-hourly versus 3-hourly feeding for very low birthweight infants: a randomised controlled trial.

Objective: To determine whether feeding with 2-hourly or 3-hourly feeding interval reduces the time to achieve full enteral feeding and to compare their outcome in very low birthweight preterm infants.

Design: Parallel-group randomised controlled trial with a 1:1 allocation ratio.

Setting: Two regional tertiary neonatal intensive care units.

Prevalence of asthma-like symptoms and assessment of lung function in schoolchildren born with low birth weight.

Introduction: This study aimed to determine the prevalence of asthma-like symptoms among schoolchildren with low birth weight (LBW), and to compare the lung function of these children with that of children with normal birth weight.

Methods: This was a comparative cross-sectional study. We recruited children aged 8-11 years from eight primary schools in Kota Bharu, Kelantan, Malaysia.

Informed Consent Template and Guidelines on the Ethical Practice in Human Genetics and Human Genomic Research; Initiatives of the Universiti Sains Malaysia.

Malaysia is advancing and nearly on pace with the international scientific community in human genetics and human genomics research. However, this research poses unique challenges. Although Malaysia already regulates medical genetic services, these regulations are insufficient for coping with the ethical issues emerging from recent genomic technologies.

High resolution melting analysis of the NR1I3 genetic variants: Is there an association with neonatal hyperbilirubinemia?

Constitutive androstane receptor (CAR) encoded by the nuclear receptor subfamily 1, group I, member 3 (NR1I3) gene regulates the elimination of bilirubin through activating the components of the bilirubin clearance pathway. Hence, NR1I3 genetic variants may affect bilirubin metabolism and result in neonatal hyperbilirubinemia. Thus far, research which investigates the association between NR1I3 variants and neonatal hyperbilirubinemia has not been undertaken in any population.

A psychologist-led educational intervention results in a sustained reduction in neonatal intensive care unit infections.

Unlabelled: Even though in the corporate world psychological science has been widely used, the formal use of evidence-based psychology in important areas of clinical medicine has been scanty at best. It was the aim of this study to determine the efficacy of a psychologist-led 2-week nurse educator training on the infection rate in the neonatal intensive care unit (NICU).

Materials And Methods: In 2007, six senior neonatal nurses underwent a training course focusing on the retrieval of evidence and knowledge of psychological principles that would allow them to share the evidence in such a way that evidence is effectively brought into practice.

Randomised controlled trial of single phototherapy with reflecting curtains versus double phototherapy in term newborns with hyperbilirubinaemia.

Aim: The use of reflecting curtains with single phototherapy has not yet been directly compared with double phototherapy (DP). The objective of this study is to compare the efficacy of single phototherapy with reflecting curtains (SPRC) and DP in treating neonatal jaundice.

Methods: This randomised controlled trial involved 160 term newborns with severe neonatal jaundice in the first 2 weeks of life.

The impact of children with disabilities on parent health-related quality of life and family functioning in Kelantan and its associated factors.

Objectives: Caring for children with disabilities brings about a significant impact on the parents and families. The purposes of this study were to determine the impact of having children with disabilities on parents' health-related quality of life (HRQOL), family functioning, and total family impact and to identify the associated factors.

Method: A total of 425 parents/caregivers of children with disabilities who were registered to community-based rehabilitation centers in 5 districts in Kelantan, Malaysia, participated in this study.

Comparison of antimicrobial resistance in neonatal and adult intensive care units in a tertiary teaching hospital.

Intrahospital variations in antimicrobial profiles may be related to many factors. This study compared causative agents of nosocomial bloodstream infections between a neonatal intensive care unit (NICU) that adopted a ward-tailored antibiotic policy and adult intensive care units (ICUs). Data on organisms from blood cultures obtained from the respective wards between 2005 and 2009 were analyzed.

A Preliminary Study on the Reliability of the Malay Version of PedsQL™ Family Impact Module among Caregivers of Children with Disabilities in Kelantan, Malaysia.

Background: No previous study has assessed the impact of childhood disability on parents and family in the context of Malaysia, and no instrument to measure this impact has previously been available. The objective of this cross-sectional study was to determine the reliability of a Malay version of the PedsQL™ Family Impact Module that measures the impact of children with disabilities (CWD) on their parents and family in a Malaysian context.

Methods: The study was conducted in 2009.