Journal of World Journal of Peri and Neonatology
Volume:5 Issue: 1, Winter-Spring 2022

Dear editor, We reported a case titled “A Case Report of Familial Chylomicronemia Syndrome” published in The World J Peri & Neonatol 2020; 3(2): 90-3. Hypercylomicronemia is a rare autosomal recessive metabolic disorder characterized by elevated levels of triglycerides and chylomicrons in the blood and is associated with a high risk of acute pancreatitis and other complications such as cardiovascular disease.1-3 On the other hand, the most common inherited hemoglobin disorder around the world is thalassemia.4 Lifelong red blood cell transfusions and iron chelation therapy are required to prevent complications of β-thalassemia major due to iron overload.5 It is usually associated with a normal serum lipid profile. However, there are a few reports in literature stating that hypertriglyceridemia has an association with beta-thalassemia major.6,7 The case introduced in our article was a patient with hyperchylomicronemia. We first justified her laboratory data and clinical signs according to her hyperchylomicronemia, and treated the patient. The patient follow-up revealed triglyceride in normal range from proper control of chylomicronemia. However, the patient's severe anemia persisted and she required frequent blood transfusions. Considering the patient's condition, we tried to investigate more accurately to determine the cause of the prolonged anemia. Reexamination and general condition of the patient raised suspicion of thalassemia major. As shown in Table 1, genetic test confirmed a definitive diagnosis of thalassemia major on finding only the thalassemia major gene. Moreover, our previous clinical and laboratory examination were suggestive of familial chylomicronemia syndrome. There exists a controversy on the relationship between hypertriglyceridemia and thalassemia major.8,9 We are not also sure if these two diseases are unrelated or should be noted as a syndrome.

The birth of a preterm newborn profoundly challenges the mother to play her parenting role. The care burden of the mother affects the entire family system. This study aimed to identify the impact of family-centered care on the care burden of mothers with preterm newborns hospitalized in neonatal intensive care unit (NICU).
In this quasi-experimental study, 60 mothers of preterm newborns hospitalized in the NICU of the Hafiz hospital in Shiraz were assessed. A four-stage family-centered care program was implemented in the first seven days of the infant's hospitalization. The control group received routine care. The amount of care burden of the mothers was measured using Caregiver Burden Scale (CBS). The two groups filled out the questionnaire at the baseline (third day after admission) and the seventh day after hospitalization.
After the intervention, the mean score of care burden in mothers in the control and experimental groups were 62.73 ± 7.44 and 58.13 ± 8.17, respectively. In the experimental group, the mean score significantly decreased compared to before the intervention. The results of the univariate analysis of covariance (ANCOVA) showed a significant difference between the two groups' mean score of care burden and its subscales (P < 0.05).
Family-centered care reduces the care burden of mothers of preterm newborns by emphasizing the helpful presence of the other family members, especially the father in the NICU. The family-centered care approach is cost-effective, feasible, practical, and effective, in addition to the positive effects of parental involvement in the care of the newborn on the process of recovery.

Disorder of sex development (DSD) is one of the most serious problems encountered at birth. DSD is a heterogeneous group of rare conditions wherein chromosomal, gonadal, or anatomical sex is atypical. The aim of this study was to define the classification and etiological distribution of patients presented with ambiguous genitalia
This study was a cross-sectional study conducted in the department of Pediatric and Endocrinology and Surgery at Shahid Sadoughi Hospital in Yazd from March 2016 to March 2020. All patients with genital ambiguity were included in the study with the exception of five patients since they did not have a final diagnosis of ambiguous genitalia.
Out of 50 patients, thirty-one (62 %) patients were diagnosed with 46, XXDSD, fifteen (30%) patients with 46, XYDSD, while four (8%) patients with ovotesticular DSD. Congenital adrenal hyperplasia (CAH) was the common cause in 46, XXDSD with majority due to deficiency of 21 hydroxylase enzyme. Three (6%) patients with 46, XXDSD were diagnosed with genital ambiguity as part of syndrome. Out of patients with 46, XYDSD, CAH observed in two (4%) patients, severe hypospadias in nine (18%) patients and 5-alpha reductase deficiency in two (4%) patients and one (2%) patient with syndrome. Four (8%) patients were diagnosed with ovoteticular DSD.
Our study revealed that 46, XXDSD was the most frequent DSD etiological diagnosis. CAH was the commonest cause in 46, XXDSD and severe hypospadias were the underlying cause of 46, XYDSD.

Parents of premature infants are more likely to be exposed to stressful situations than parents of term infants. This study aimed to determine the effect of educational-supportive interventions on the tolerance of parents of premature infants admitted to the neonatal intensive care unit (NICU).

In this quasi-experimental study, the participants included 50 parents of premature infants admitted to one of the NICUs in Shiraz, Iran from October 2019 to May 2020. Parents were randomly assigned to intervention and control groups. Educational intervention (training package and its content) was done in five 45-minute sessions for two weeks and three times a week. The supportive care was provided one day after the intervention. The data were collected using a demographic questionnaire and Distress Tolerance Scale and analyzed by SPSS 24 using paired t-test, independent t-test, and chi-square test.

The mean scores of the mothers' and fathers’ distress tolerance in the pre-intervention stage were 36.0 ± 6.1, 33.9 ± 7.4 in the control group (P < 0.14), and 38.4 ± 5.8, 38.0 ± 5.9 in the experimental group (P < 0.001), respectively. After the intervention, the mean scores of the mothers’ and fathers’ distress tolerance in the control group were 35.9 ± 5.3 and 36.5 ± 6.3, and in the experimental group 54.7 ± 5.3, 53.0 ± 6.0, which compared to before the intervention showed a significant increase (P < 0.001).

Supportive-educational programs can increase distress tolerance in parents of premature infants. In the future, these programs can be planned to promote the quality of infant care.

Maternal hyperglycemia is a critical risk factor for congenital heart diseases (CHD). Despite advancements in the medical management of diabetic mothers, the CHD in their infants are still more recurring compared to infants of the general population. The primary purpose of this investigation was to explore the prevalence of CHD in infants of diabetic mothers (IDMs). The study was also aimed at investigating possible associations between the types of maternal diabetes with the incidence of CHD in IDMs especially the status of diabetic control.

This cross-sectional study was performed between October 2016 and September 2017, in a Heart Center in Yazd. The cases were comprised of 150 neonates of mothers with diabetes. We determined CHD via fetal echocardiography during the first day of childbirth and estimated the prevalence of CHD in IDMs and its association to control status of diabetes in mothers.

The prevalence of CHD in IDMs was 12.7%. The results showed that there was a significant relationship between maternal uncontrolled diabetes and a high incidence of CHD in IDMs (P ≤ 0.0001), but there was no association between the type of diabetes and the incidence of HCM.

We concluded that controlling maternal diabetes has the greatest effect on the prevention of CHD in neonates. The prevalence of CHD in IDMs was 12.7% which is high that may be due to poor control of diabetes in pregnant women in Iran. Also, neonates of diabetic mothers need more cardiac evaluation tests and follow-ups. Therefore, more studies on the effects of maternal diabetes-induced CHD in neonates are needed.

There is little data on the mortality rate and severity of COVID-19 infection among pediatrics. This knowledge is particularly significant because pneumonia is the main underlying cause of death in children worldwide. This systematic review and meta-analysis aims to evaluate the mortality rate of COVID-19 in the pediatric population in Iran.

A systematic review and meta-analysis of the publications was conducted based on the PRISMA guidelines to search for COVID-19 child mortality. PubMed, Google Scholar, Embase, Medline databases, and Persian database were searched for publications on pediatric COVID-19 infections published in Iran with a focus on mortality in children with COVID -19 infection in Iran between January 1st to April 30th, 2021. Articles representing at least one Pediatric with and without comorbidities, COVID-19 infection, and informed outcomes were examined.

Eight studies including three case series, and five retrospective cross-sectional studies altogether representing a total of 238 pediatric patients with COVID-19 were included in this meta-analysis. Of this population, 14 patients had died. In this study, the mean age of the study sample was 6.7 years. The mortality rate among children hospitalized with COVID-19 was 9% (95% CI 0.055-0.146). Also, children with comorbidities had a higher risk of COVID-19 related mortality.

Unlike adults, most infected children are asymptomatic and are not usually hospitalized. Children with underlying conditions are at increased risk of severe COVID-19 related mortality than children without underlying illness. More attention should be paid to children with comorbidities and children of young age.

Congenital generalized lipodystrophy (CGL) presents during the first two years of life. It is a rare autosomal recessive inherited disease with loss of cutaneous fat and various complaints and complications such as diabetes mellitus, hypertriglyceridaemia and hepatic steatosis.

A patient was hospitalized with abdominal distention, weight loss, irritability, and pruritus. Massive hepatomegaly, huge splenomegaly, multiple significant lymphadenopathies, hypertrichosis, generalized subcutaneous fat loss with bird-faced, increased musculature, and prominent superficial veins were detected on examination. In paraclinical evaluation, hyperlipidemia and severe liver fibrosis (grade 5) were diagnosed, and she was discharged as a case of congenital generalized lipodystrophy.

In an approach to a child with hepatosplenomegaly, lipodystrophy should be in mind.

Deficiency of hepatic fructose 1,6 bisphosphatase (FBPase), a key enzyme in gluconeogenesis, impairs the formation of glucose from all gluconeogenic precursors including dietary fructose. Patients present with life threatening metabolic acidosis, fasting hypoglycemia, hepatomegaly, hyperketosis, elevated lactate and uric acid level. Glycerol and glycerol-3 phosphate have been found in the urine. The diagnosis of FBPase deficiency is confirmed via DNA molecular analysis from peripheral leukocytes. The acute life threatening episodes are treated with IV glucose at high rate and bicarbonate to control hypoglycemia and acidosis.

Here we report a girl referred with anorexia, lethargy, recurrent vomiting, progressive respiratory distress, and hepatomegaly following respiratory viral infection. She also had a history of twice similar attacks but milder than previous episodes. The test results showed hypoglycemia and severe metabolic acidosis. Despite proper treatment, the patient died of pulmonary edema following a respiratory viral infection.

Once FBPase deficiency has been diagnosed and adequate management introduced, its course is usually benign. Growth both psychomotor and intellectual development are unimpaired and tolerance to fasting improves with age.