Online ISSN: 2515-8260

Keywords : neonates

Evaluation of Inborn Errors of Metabolism in Neonates and Children

Mohamed R. Beshir; Ahmed Emam; Wesam A. Mokhtar; Esraa H. Elsayyad

European Journal of Molecular & Clinical Medicine, 2021, Volume 8, Issue 3, Pages 2181-2188

Background: Inborn errors of metabolism (IEMs) make up a large group of rare
disorders caused by an inherited deficiency or absence of proteins that have
enzymatic, carrier, receptor, or structural roles. This study is aimed to early
detection, diagnosis, and intervention to improve outcome.
Patients and methods: This cross-sectional study was done in Pediatrics
Department, Zagazig University Hospitals. It included 65 cases with suspected
inborn errors of metabolism. All the studied cases were subjected to full history
taking, clinical examination and Laboratory investigations.
Results: The age of neonates, infant and children were 35 (54.6%), 22 (34.37%), 8
(10.93%) cases respectively, 34 cases were females and 30 males. The most common
complaint was poor suckling in 14 cases (21.8%) then lethargy as well as fever in 6
cases (9.37%). Disturbed consciousness and hepatosplenomegaly were present in 11
cases (17.18%). Metabolic disorders including metabolic acidosis (25%),
hypoglycemia (3.12%), raise lactate level (4.68%), hyperammonemia (14) and
presence of ketonuria in (4.68%) of cases, respectively. The different disease types
of the studied cases after routine and specific laboratory finding, our results showed
that, 18 cases Suspected IEM (not diagnosed), 11 cases Diagnosed metabolic (non
PKU), 36 cases Diagnosed Phenylketonuria (PKU).
Conclusion: Early diagnosis of inborn errors of metabolism (IEMs) during
neonatal period or infancy for starting its proper treatment will improve outcomes,
control complications of metabolic diseases and decrease the mortality rates.

Early Detection of Hearing Impairment in Neonates with Dual/Multiple TORC (Toxoplasma, Rubella, Cytomegalovirus) Infections

Risa Etika, Iin Fatimah, Nyilo Purnami, GadisMeinar Sari, Puspa Wardhani

European Journal of Molecular & Clinical Medicine, 2021, Volume 8, Issue 3, Pages 3238-3253

Background and objective:Hearing impairment is often associated with pregnancy
infections such as Toxoplasma, Rubella, Cytomegalovirus (TORC). The aimswere to
determine the prevalence of hearing impairment using Otoacoustic Emissions (OAE) and
analyze the associated risk factors in neonates with dual/multiple TORC infections.
Materials and Methods:This cross-sectionalstudy was conducted from
SeptemberuntilNovember 2019. Infants admitted in the intermediate room during the
period were included in the study and underwent OAE to evaluate the presence of hearing
impairment.Infants with OAE refer tested with TORC examination. Prevalence of hearing
impairment with dual/multiple TORC infections was calculated and the Odds Ratio for
specific risk factors was measured using Fisher’s exact test.
Results: Over the period, 50 babies were screened. Forty-three babies (86%) presented
normal hearing at OAE. Seven babies (14%) response OAE refer. Out of 7 infants, one
infant classified OAE refer had early discharged, the six of them undergo TORC
examination. Out of 6 infants, 5 of them represented dual/multiple TORC infections. By
univariant analysis,the most higher risk factor for hearing impairment and dual/multiple
TORC infection was the premature rupture of membrane OR 41; 95% CI 3,65 – 46,03.
Correlation between dual/multiple TORC infection and hearing impairment was
significant statistically, p=0.001, R = 0.826.

Evaluation of Pneumothorax in Neonates in Al Immamian Alkadhomain Medical City

Abbas Jaafar Khaleel Al-Anbari; Dr. Jawad Kkadhum Abid

European Journal of Molecular & Clinical Medicine, 2020, Volume 7, Issue 2, Pages 214-219

Introduction: Pneumothorax occur most during neonatal age than other age of life in
human being, this more related to high morbidity and death rate. It started form damage
to alveoli that more distended. The air seepages lengthways of the perivascular sheath of
connective tissue inside to the pleural space, The aim of our study is to assessment of
prevalence, recognize the danger factors and to define the clinical features, treatment and
consequence of neonates that have pneumothorax and determine the fate of neonates
after treatments.
Method: Prospectively collected data from newborn infants with pneumothorax observed
and treated at the Neonatal Intensive Care Unit (NICU) in al immamian alkadhomain
medical city, Sociodemographic data of neonates, clinical features of pneumothorax and
treatment of pneumothorax. Finally, assessment the fate of neonate assessed.
Results: A cross section descriptive study on 41 neonates mean age (34.6 ± 3) weeks
most age group 31 – 40 weeks 85% and weight (2 ± 0.7) kg most neonates (49%) with
2.1 – 3 kg, 34% females and 66% males, 61% of neonates are single parity, 71% of
neonates not need to antenatal steroid, while 56% of neonates delivered by CS, 71% of
neonates with Apgar score less than 7 in first 1 min., Significant association between
sociodemographic variables and clinical features as show in table 4; 52% of right
pneumothorax occur in male, 88% of left pneumothorax occur in male and 100% of
bilateral pneumothorax occur in male. 57% of RDS occur females while 43% of RDS in
male. 100% of TTN occur in single parity. 67% of pneumonia occur at age group 21- 30
week. Significant association between sociodemographic variables and treatment and fate
as show in table 5; 56% of neonate’s need C-pap were females and 44% were males.
56% of neonates need O2 therapy with weight 2.1-3kg, 26% of them that need O2 therapy
with weight 1-2 kg. 55% of alive neonates are males and 45% are females, 72% of single
parity neonates still alive.
Conclusion: Pneumothorax is moderately common in the NICU. The fate of neonates are
71% still alive and 29% dead. Pneumothorax itself was not a factor of death, probably due
to the sufficient and rapid therapy used in the NICU.

Prevalence and Risk Factors of Congenital Anomalies among the sick neonates of the Ladakh region of India

Mohd Murtaza; MdNiamat Ali; MahrukhHameed Zargar; Oliyath Ali

European Journal of Molecular & Clinical Medicine, 2020, Volume 7, Issue 7, Pages 1083-1092

Congenital anomalies are the structural and functional irregularities at birth. In this progressive study, all the neonates who are admitted to the Neonatal Intensive Care Unit during the three year period from 1st June 2017 to 31 May 2020.
Aim: The study aims to examine the prevalence, type, and epidemiological factors of congenital anomalies among the population of Ladakh India.
Subject and methods: All the neonates during the study period were examined by pediatrics and questionnaire filled by the consent of the family. A total of 936 parents of neonates was agreed to participate in this study and among them, 524 are male neonate and 412 was female.
Results: Four and a half percent were diagnosed as being congenital malformed and the common system affected by congenital anomalies in the digestive system followed by the mucso-skeletal system. In this study, based on the logistic regression consanguineous marriage with OR of 9.862 (4.221; 23.041), P= <0.001, familial congenital anomalies in the family with OR of 17.008 (4.343; 66.606), P=0.001, an anaemic mother with OR of .124 (.029; .538). P = .005, Apgar score with .033 (.016: .067), P-value of <0.001 and paternal smoking with OR of 13.305 (5.558: 31.854) with P value of <0.001 had shown a very good significant correlation with the congenital anomalies.
Conclusion: The occurrence and distribution of congenital anomalies in Ladakh were reported. More active prenatal screening and the possible role of genomics study are major importance to uncovering the susceptibilities.

Neonatal Danger Signs: Knowledge Inmothers Of Children Aged Less Than 1 Year In Uae.

Raagapriya Madhan Kumar; Dr. Koushik. M; Dr.B. Charumathi; Dr.Timsi Jain

European Journal of Molecular & Clinical Medicine, 2020, Volume 7, Issue 8, Pages 3451-3459

Introduction:The neonatal period comprising the first 4 weeks (28 days) of a child's life after birth is critical and dangerous events might occur. Structural, functional changes occur rapidly in this period. It is very important for mothers to be aware of the danger signs in neonates during this period. This study was done to find the prevalence of knowledge and awareness of danger signs among mothers of children aged less than 1 year.
Methods: A Community based cross-sectional study was carried out in United Arab Emirates from June 2020 to August 2020. Simple random sampling method was used and the sample size was calculated as 150. Mothers of children aged below 1 year were included in the study. A semi-structured pre-tested questionnaire was used in this study for interview purposes. Informed oral consent in common languages- English, Hindi, Tamil, Telugu, and Malayalam was obtained.
Results: The prevalence of good knowledge of danger signs among mothers of children aged less than 1 year in this study was found out to be 28.6%. 91.2% of the mothers have reported having sought medical care when any of the mentioned Danger signs occurred whereas 8.7% of them had opted to treat at home.
Conclusion:In spite of extensive coverage of maternal and child health services, the knowledge and awareness of the danger signs in neonates are fairly low in the mothers. Therefore more awareness and health education campaigns need to be implemented.