Open Access Case Study

Aicardi-Goutières Syndrome: About a 7-Month-Old Infant

Fatima Azzahraa Yatribi, Khadija Mouaddine, Abdelali Bentahila, Bouchra Chkirate

Asian Journal of Pediatric Research, Page 30-33
DOI: 10.9734/ajpr/2022/v8i130235

The Aicardi-Goutières syndrome is an encephalopathy characterized by an arrest of psychomotor development in the first months of life, spastic tetraplegia spastic tetraplegia, abnormal movements and acquired microcephaly. Neuroimaging reveals calcifications of the basal ganglia and cerebrospinal fluid (CSF) study shows lymphocytosis. Our patient is a 7 month old child, from a 1st degree consanguineous marriage. She presents a psychomotor delay with hypotonia, nystagmus and convulsive myoclonic seizures. Cerebral CT shows an active tri ventricular hydrocephalus with multiple parenchymal calcifications with multiple cerebral parenchymal calcifications and basal ganglia of infectious appearance. The intercritical sleep EEG was unremarkable. Ophthalmological examination, including an EPI, revealed a probable retinal dystrophy predominantly on the scopic system. Brain MRI shows a mesencephalic atrophy of the annular protuberance and increased volume of the volume of the cisterns of the posterior cerebral fossa. The dosage of interferon alpha in the CSF is increased to 113 pg /ml.

Open Access Original Research Article

Analysing the Views of Turks and Arabs on Human Milk Banking

Aykut Ekiyor, Merve Özzeybek Taş

Asian Journal of Pediatric Research, Page 1-11
DOI: 10.9734/ajpr/2022/v8i130232

Human milk is an important source of food for a new born baby to grow up in a healthy manner. World Health Organisation points to the importance of feeding on human milk and ranks it as the first source of nutrition.    

This paper aims to analyse the views of Turkish and Saudi Arabian citizens’ views on human milk banking comparatively. The research sample was composed of 184 individuals who lived in Turkey and 385 individuals who lived in Riyadh- the capital of Saudi Arabia. The participants were given the survey form on human milk banking. Mann Whitney U test was used in comparing the differences of independent groups for two-class data whereas Kruskal Wallis H test was used for multi-class data and Hochberg GT2 test was used in finding which groups had the source of difference. It was concluded that there were no differences between Turks’ and Arabs’ views on human milk banking and that they both had negative attitudes towards milk brotherhood.

Open Access Original Research Article

The Features of Down Syndrome and the Risk of Parent’s Age

Wafa Saad Abdalrazi, Fadwa A. Mansour Eldgheili, Negeia Imhamed Ali Elgaroushi, Mohanad Abdulhadi Saleh Lawgali

Asian Journal of Pediatric Research, Page 12-18
DOI: 10.9734/ajpr/2022/v8i130233

Background: Down syndrome is the most common autosomal disorder in humans. And the most common genetic chromosomal disorder causing mental disability in children.

It also cause other medical abnormalities including heart and gastrointestinal disorder.

These children sharing common features and characteristic faces.

Each individual with this syndrome will not have all the features, but they will have a unique combination.

Objective: In our study we try to spot light on the craniofacial features of Down syndrome in our country: their percentage; to compare it with another study in other countries.

We also focus on the craniofacial features accuracy in diagnosis. Karyotyping not always available.

Also we study the risk factors where we found that the mother age is not the only risk factor, but also the father age play a big role in Down syndrome and this risk factor needs to be studied with large number of patients.

Also we study the problems associated with Down syndrome and its percentages, and to compare it with other study done in our neighbor's countries, where we found many differences

Setting and Design: Our study is a descriptive, case series retrospective study was conducted in Benghazi Libya's children hospital.

This study includes 73 patients who were referred to our Genetic clinic from October 2016 to march 2017.

The genetic clinic is the only clinic in Benghazi and the whole East of Libya.

This clinic follows children with DS and children with dysmorphic features in Benghazi and the Libyan ‘east.

Materials and Methods: We studied 73 children randomly from different age group, and different socioeconomic classes, who attend the genetic clinic, which is an outpatient clinic and the only clinic which follows children with DS and dysmorphic feature in a pediatric hospital in Benghazi- Libya.

We took the history from the parent (the father and the Mother).

The investigation done in our hospital.

Father and mother age at pregnancy.

Spontaneous or induced pregnancy.

Drug history of the mothers and fathers.

History of abortion and normal children.

Any other baby with Down syndrome or other dysmorphic features.

Echocardiography done for all children.

Ultrasound abdomen and brain did for all children.

Thyroid function test done for all children and repeated annually for all children.

The diagnosis done mainly by clinical features. Some cases (40 cases) are proved by karyotype chromosomal analysis.

Open Access Original Research Article

Paediatric Nurses Approach in Carrying Out Patient and Family Centered Care at a Tertiary Hospital in Northern Ghana

Nicholas L. Yombei, Vida Nyagre Yakong, Keren-Happuch Twumasiwaa Boateng, Williams K. Boateng

Asian Journal of Pediatric Research, Page 19-29
DOI: 10.9734/ajpr/2022/v8i130234

Background: Patient and Family Centred Care (PFCC) is one of the fundamentals in paediatrics nursing which is struggling to gain recognition in nursing practice worldwide due to inadequate exploratory studies in the area. Others also call PFCC in paediatric world as Child and Family Centred Care (CFCC). Admittedly, its benefits to paediatric health care delivery cannot be measured but practicing is problematic. Nurses, policy makers and nursing research are yet to give the necessary attention PFCC deserves.

Purpose: The purpose of this study was therefore to explore the practice of PFCC in the Paediatric Ward of Tamale Teaching Hospital.

Methodology: This study made use of a purposive convenient design. Qualitative data was collected using validated interview guide which were administered to ten participants in the Paediatric Ward of Tamale Teaching Hospital in the Tamale Metropolis.

Key Findings: The results showed majority of the participants do not have enough knowledge on PFCC, PFCC is partially being practiced and inadequate infrastructural in the ward.

Recommendations: Policy on PFCC should be established by the government, models of Patient and Family Centred Care should be developed, refresher courses on PFCC should be given to nurses, the general public should be sensitized on PFCC and more nursing research should be carried on it.

Open Access Review Article

Genetic Aspects in Congenital Heart Diseases in Infant of Diabetic Mother: A Review Article

Mohammed H. Hassan, Amany Abdelaty Hassany, Nagwan I. Rashwan, Ahmed El-Abd Ahmed

Asian Journal of Pediatric Research, Page 34-40
DOI: 10.9734/ajpr/2022/v8i130236

Background: The pathogenesis and effects of maternal diabetes on their infants is still not entirely understood, but it's likely to have several teratogenic mechanisms. The fetal heart is anatomically and physiologically altered by diabetes mellitus. About 400 genes are thought to be involved in the etiology of congenital heart disease such as DAW1, DNAI1,DRC1, PDE2A,CCDC39,TMEM67, and ICAM. Endothelial cells and immune system cells exhibit the cell surface glycoprotein CD54, also known as intercellular adhesion mollecule-1 (ICAM-1), which is thought to contribute to atherogenesis by increasing monocyte accumulation within the artery intima. In adult individuals with unexplained cardiac dysfunction as well as animals with myocarditis, ICAM-1 expression has been seen on cardiac myocytes. So, the aim of our review is to explore variant genetic aspects implicated in development of congenital heart diseases (CHD) in infants of diabetic mothers and the possible effect of diabetes mellitus.

Conclusion: Genes that were highly enriched in cell adhesion molecules (CAMs) were found to be among the many differentially expressed genes (DEGs) in embryonic heart tissues from diabetic mothers, including ICAM-1, which had the greatest connection degree in the protein-protein interaction (PPI) of both upregulated DEGs and shared DEGs and are major determinants in development of CHD among infant born to diabetic mothers.