Open Access Case Study

Case Study: Patient with 7p14–P21 Deletion Spanning the TWIST Gene and the HOXA Gene Cluster

Nadia Mebrouk, Amina Barkat

Asian Journal of Pediatric Research, Page 1-5
DOI: 10.9734/ajpr/2021/v5i130162

Introduction: While several literature reports have been published about patients with microdeletions within chromosome 7p, only a small fraction of those reports is specific to deletions that encompass the TWIST gene and HOXA gene cluster.  The large-span deletions within this cluster result in haploinsufficiency of six genes known to have a role in different autosomal dominant genetic disorders: TWIST1, GSDME (DFNA5), CYCS, HOXA11, HOXA13, and GARS.  Deletion of TWIST1 gene on 7p21 and deletion of HOXA cluster on 7pl5.2 lead to Saethre-Chotzen syndrome and to hand-foot-genital syndrome, respectively.

Objectives: Our patient presented with a phenotype combining Saethre-Chotzen syndrome (SCS) and hand-foot-genital syndrome (HFS), which is similar to previously reported cases with a deletion spanning 7p21– p14.3. The objective of our report is to correlate the clinical observations with the patient’s genetic test result, namely 46,XY,del(7)(p14p21).

Patient and Methods: We describe a patient who had manifestations of SCS and HFU, caused by an interstitial deletion of chromosome 7p21–p14 detected by RHG band.

Results and Conclusion: We therefore confirm previous reports that microdeletions of 7p spanning the TWIST gene and HOXA gene cluster lead to a clinically recognizable ‘haploinsufficiency syndrome’.  All of the features of this patient could be accounted for by combined effect of the deletion of the TWIST and HOXA cluster.

Open Access Short Research Article

Arrhythmias and Conduction Abnormalities after Surgical Repair of Congenital Heart Disease

Mohanad Abdulhadi Saleh Lawgali, Marium Mohamed Mustafa, Rasmia H. Feituri, Faiaz Ragab Salem Halies

Asian Journal of Pediatric Research, Page 30-35
DOI: 10.9734/ajpr/2021/v5i130166

Aims: To recognize cardiac arrhythmias and conduction abnormalities in children who underwent a surgical repair for congenital heart disease.

Patients and Methods: One hundred thirty one (131) patients underwent a surgical repair of congenital heart disease between 2000-2018, and follow-up period after surgery was from two months to eighteen years and our data was collected over 1 year “2018”  by interview both children and parents, sixty-four patients (48.8%) were a cyanotic congenital heart disease (ACCHD),sixty-seven patients(51.1%) were cyanotic congenital heart disease (CCHD), (41.9%) were female, (58.1%) were male. Cyanotic congenital heart disease more common in male. These patients were evaluated by ECG to detect conduction abnormalities and arrhythmias, Holter monitoring in symptomatic patient.

Results: Types of abnormal heart rhythm found out by ECG, Holter monitoring, significant premature atrial contraction (PAC) in one patient post fontain, atrial fibrillation in two patients with post-operative (ASD) repaired. RBBB occur in 53 patients and was most common among post-operative (TOF) repaired (37 patients). Frequent ventricular ectopic in one patient with postoperative (TOF) repaired. Atrial tachycardia in one patient with Epstein anomaly, WPW in two patients with Epstein anomaly, complete heart blook in five patients, four of them post operative VSD repaired, one post fontain operation. Symptomatic bradycardia needs pace maker in one patient post fontan operation.

Conclusions: The Patient after repair of congenital heart defect needed follow-up for detection of arrhythmias, those with complex defect need more frequent follow-up because they prone more to arrhythmia than those with simple defect with no residual defect. 

Open Access Minireview Article

Social Isolation in Times of COVID-19: Effects on Adolescents' Mental Health

Luiz Antonio Del Ciampo, Ieda Regina Lopes Del Ciampo

Asian Journal of Pediatric Research, Page 13-18
DOI: 10.9734/ajpr/2021/v5i130164

Introduction: The pandemic caused by the new coronavirus forced the adoption of several measures for individual and collective protection measures,  including isolation, which interrupted direct social contact and started to draw the attention of researchers due to its potential risk of damage to  people’s mental health, notably for the most sensitive groups, such as adolescents.

Aim: This article presents some emotional repercussions observed in groups of adolescents, after six months of social isolation.

Methodology: Literature retrieved through Google Scholar, Medline, PubMed, Scopus, Scielo, and Cochrane Library databases related to the mental health of adolescents during the period of social isolation determined by the coronavirus pandemic, published between January and July 2020.

Results: The studies have found manifestations ranging from mild symptoms, such as boredom, inattention, agitation, irritability, fatigue and excessive worries to those of greater magnitude, such as worsening cognitive performance, exaggerated fear and varying degrees of anxiety and depression

Conclusion: The data allow us to state that social isolation has immediate effects and probably also in the medium and long term, on the behavior and emotional health of adolescents. Both healthy teenagers and those who already have a change in the pre-existing emotional state must be carefully observed and supported during the most critical moments of this global crisis.

Open Access Original Research Article

Detection of HIV-1 and -2 Antibodies among Children and Knowledge, Attitude, Perceptions and Practices (KAPP) of Their Parents in Port Harcourt, Nigeria

Iheanyi O. Okonko, Tochi I. Cookey, Ifeyinwa N. Chijioke-Nwauche, Sofiat Adewuyi-Oseni, Charles C. Onoh

Asian Journal of Pediatric Research, Page 6-12
DOI: 10.9734/ajpr/2021/v5i130163

Aim: Paediatric testing for HIV in low-income and middle-income countries is poor and must be raved up as this is important for treatment and survival among this disease-prone demographic area. This study was carried out to detect the presence of HIV-1 and -2 antibodies among children receiving health care service in the University of Port Harcourt Teaching Hospital (UPTH), Port Harcourt, Rivers State, Nigeria. It also aimed to assess the knowledge, attitude, perceptions and practices of their parents on HIV/AIDS in Port Harcourt, Nigeria.

Study Design: Cross-sectional study.

Place and Duration of Study: University of Port Harcourt Teaching Hospital (UPTH) in Port Harcourt, Nigeria, between August 2012 and July 2015.

Methods: One hundred subjects (58 males and 42 females) were used in this study. Blood samples were collected randomly from children in the outpatient department of the hospital. HIV-1/2 was detected using Gen ScreenTM ULTRA HIV Ag-Ab Kit (BIO-RAD), an ELISA based test kit following the manufacturer's instructions.

Results: The overall prevalence was found to be 5.0%. The gender-specific infection rate shows that males had a higher infection rate (5.2%) for HIV infection than their female counterparts (4.8%). The age-specific prevalence showed that the children in age groups 8-10 years had a higher prevalence (6.7%) than those 2-4 years (4.5%) and 5-7 years (4.2%). None appeared to be significantly associated (P>0.05) with HIV-1/2 antibodies prevalence among the children population. The knowledge, attitude, perceptions and practices of parents of the children indicate that 100.0% of them believed HIV/AIDS is real and children live with it; 62.0% have been screened for HIV before while 38.0% have not; 77.0% believe HIV cannot be cured while 19.0% believe it can; 66.0% know that it can be transmitted from mother to child whereas 16.0% believe it cannot and 70.0% confirmed they share sharp objects.

Conclusion: This study however further confirmed the presence of HIV-1 and 2 antibodies among Children in Port Harcourt, Nigeria. HIV can affect all age groups, both males and females. Health education campaigns and training on HIV prevention and control is recommended.

Open Access Original Research Article

Parental Awareness of Accidents Prevention Strategies towards the Physical Wellbeing of Preschool Children in Port Harcourt Metropolis, Rivers State

G. A. Amadi, R. N. Azunwena

Asian Journal of Pediatric Research, Page 19-29
DOI: 10.9734/ajpr/2021/v5i130165

This study aimed at assessing parental awareness of accidents prevention strategies towards the physical wellbeing of preschool children in Port Harcourt metropolis, Rivers State. A quantitative survey design was used for the study. A non-proportionate stratified random sampling technique was used to select 600 respondents who were parents with children between the ages of 1-6 years old in Port Harcourt local government area. A simple random sampling technique was also used to select 6 towns that participated in the study. Data was collected through a questionnaire and then analyzed using the statistical package for social sciences. Respondents from the study were aware to a high extent that disallowing faulty balconies/rails where little preschoolers are can prevent dangerous falls; living in houses with windows shield will protect preschoolers; disallowing faulty electrical outlets in the home can save preschoolers from accidents; and avoiding careless storage of sharp objects in the home can prevent cuts among preschoolers. They also showed high extent of awareness that teaching preschoolers the dangers of playing around fires; teaching parents the rudiments of safety for preschoolers; teaching preschoolers the dangers of playing with sharp objects, and teaching preschoolers the dangers of playing around pools can help prevent avoidable injuries. The result also showed high extent of awareness that avoiding wrong placing of kerosene stove or gas cylinders within the reach of preschoolers; avoiding smoking in the presence of children can reduce the risk of preschoolers attempting the act of smoking, and parents who are more careful in home arrangement and storage of objects can prevent accidents among preschoolers. This study therefore reveals adequate environmental consciousness by parents; adequate teaching on safety measures and effective behaviour management are significant strategies for home accident prevention among parents for the physical wellbeing of preschool children.