Evaluation of Vitamin D Level in Children With Febrile Seizure Referred to Amirkola Children's Hospital, Babol.

Objective. This study aim to evaluate the level of vitamin D with the incidence of febrile seizure. Method. This case-control study was conducted on 90 febrile children referred to Amirkola Children's Hospital from 19 February to 21 August 2021. Febrile children with and without seizures were considered as case and control groups, respectively. Vitamin D, calcium, phosphorus, and alkaline phosphatase were evaluated. Results. The mean level of vitamin D was not significant between the 2 groups (P = .62), but the mean level of alkaline phosphatase was higher in the case group, statistically (P = .04). 46.75% and 15.6% of case group, 28.9% and 26.7% of control group had deficiency and insufficiency levels of vitamin D, respectively (P = .17). Conclusion. In this study the mean level and deficiency of Vitamin D were not significant between the 2 groups. No correlation was also found between Vitamin D levels and the incidence of Febrile Seizure.

The effect of oral use of concentrated pomegranate juice by mothers on hyperbilirubinemia in neonates under phototherapy: A randomized clinical trial.

Background: Hyperbilirubinemia is a common problem in neonates that causes hospitalization. The aim of this study was to investigate the effects of concentrated pomegranate juice (CPJ) consumption by breastfeeding mothers on neonatal hyperbilirubinemia. Materials and Methods: In this open-labeled, add-on, randomized clinical trial, 86 breastfeeding mothers and their neonates were allocated into two groups. In the control group, neonates received phototherapy. Besides neonates' phototherapy in the intervention group, their mothers received CPJ (1 tablespoon [15 g] three times a day) up to discharge. The bilirubin level was the primary outcome. The duration of phototherapy, the duration of hospital stay, and the need for exchange transfusions were secondary outcomes. Results: CPJ reduced the bilirubin level of hospitalized neonates within 48 h after consumption (P = 0.048, standard mean difference = 0.648). It also resulted in reduced duration of hospital stay and faster discharge of the neonates. Furthermore, in 48 h after discharge, bilirubin was significantly lower in the CPJ group (P = 0.003, partial eta squared = 0.123). Conclusion: Compared to the control group, consumption of CPJ by lactating mothers whose infants underwent phototherapy resulted in lower bilirubin levels, shorter hospital stay, and faster discharge.

Determination of serum alkaline phosphatase reference in healthy children aged 1-18 years.

Background: The growth and development of children affect biochemical variables. This population-based study was designed to evaluate the reference interval for alkaline phosphatase (ALP) routinely measured in the clinical laboratory. Methods: For this examination, 873 cases were selected among the healthy children and adolescents aged 1-18 years who referred to the endocrinology clinic of Amirkola Children's Hospital for growth evaluation. After overnight fasting, early morning blood samples were obtained to measure the ALP level and other biochemical parameters using an automatic biochemical analyzer. Subjects were categorized by age, sex, and body mass index (BMI) values. The age groups were categorized as follows: 1-4 years, 5-8 years, 9-13 years, and 14-18 years. Results: There was a significant difference among the age and sex categories; on the contrary, there was no meaningful variation between the two groups categorized by BMI. The reference range for ALP was 474.14-517.71 U/L for children aged 1-4 years, 273.47-871.44 U/L for 5-8 years, 215.04-893.69 U/L for 9-13 years, and 228.9-739.22 U/L for 14-18 years. Also, significant positive correlation was found between ALP with length (P=0.000, r=0.134), weight (=0.04, r=0.073), phosphorus (P) (P=0.001, r=0.122), and alanine aminotransferase (SGPT) (P=0.000, r=0.142) respectively. Conclusion: This project's data established a reference interval for ALP in healthy children and adolescents, which will prepare a basis for diagnosis and monitoring liver- or bone-related disorders.

The effect of neuromuscular electrical stimulation on serum glucose levels in children and adolescents with type-1 diabetes mellitus: a single group clinical trial.

BACKGROUND: This study aimed to evaluate the effect of Neuromuscular Electrical Stimulation (NMES) on serum glucose level in children and adolescents with type-1 diabetes. METHODS: This before-after, single-group, clinical trial was conducted on 29 patients with type-1 diabetes mellitus with the age range of 7-18 years. The patients underwent NMES in two 20-minute phases on the quadriceps and hamstrings muscles, three sessions per week for a period of 8 weeks. Fasting Blood Sugar (FBS), measured in two ways, by glucometer and laboratory testing, was considered as the primary outcome and the glycated hemoglobin (HbA1c) and the total daily dose (TDD) of insulin were measured as the secondary outcomes. The laboratory FBS and HbA1c were measured 1 day before the intervention (as a baseline value) and then 2 and 6 weeks after the last session of intervention. FBS by glucometer and total daily dose of insulin were recorded daily from 2 weeks before the intervention to the last day of the intervention and consequently, the weekly average of these variables was calculated and used for statistical analysis. RESULTS: The serum level of FBS (measured by glucometer) and the total daily dose of insulin reduced significantly 2 weeks after beginning of intervention. The laboratory serum level of FBS decreased significantly in the second week after the end of intervention compared to the baseline values. Although the HbA1c level decreased at follow-up period (2 and 6 weeks after the intervention), it was not significant. CONCLUSION: It seems that 8 weeks of NMES has beneficial effects on the reduction of FBS and TDD of insulin therefore, it could be suggested as the contributory treatment in management of children and adolescents with type-1 diabetes. TRIAL REGISTRATION: The study was registered at https://fa.irct.ir/user/trial/51739/view (IRCT20100523003998N1) in date of 25/10/2020.

COVID-19 and renal involvement in children: a retrospective study.

Background: The New coronavirus (SARS COV-2) can cause acute respiratory disease and also multiorgan dysfunction. There is insufficient data about kidney involvement in children. So, this study was done on children with COVID-19 to evaluate nephrological involvement. Methods: All children with confirmed or suspected COVID-19 who were admitted in Children Hospital .were enrolled. They were admitted in hospital from March 2020 to July 2020. Serum Blood Urea Nitrogen (BUN), creatinine, sodium, potassium, calcium and urinalysis were evaluated. Also, glomerular filtration rate (GFR) was calculated by Schertz's formula. All patients were evaluated by chest x-ray and/or computerized tomography scanning (CTS). The data were analyzed by SPSS software and P value less than 0.05 was determined as significant. Results: Forty-seven children with confirmed or suspected COVID-19 were enrolled to this study. At admission, 23.4% and 27.7% of children with COVID-19 infection had abnormal increase in serum BUN and creatinine, respectively. Also 78.8% and 25.5% of children had GFR less than 90 and 60 ml/min /1.732, respectively. Additionally, 13/47 (27.7%) of children had abnormal urine analysis (microscopic hematuria and/or proteinuria). There wasn't a significant relationship between pulmonary lesions and abnormal reduction of GFR (P<0/05). Conclusion: In the study, the risk of AKI (acute kidney injury) and decrease of GFR and also abnormal urinalysis is high in children with COVID-19. So, more attention for detection of kidney involvement is necessary and more conservative management for prevention of AKI and decrease of GFR are recommended.

Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier.

OBJECTIVE: Maple syrup urine disease (MSUD; OMIM #248600) is an autosomal recessive metabolic disorder in the catabolism of branched-chain amino acids (leucine, isoleucine, and valine) and may be lethal if untreated in affected newborns. METHODS: Single-nucleotide polymorphism haplotyping and Sanger sequencing of BCKDHA, BCKDHB, and DBT genes were performed in a cohort of 10 MSUD patients. RESULTS: We identified a 16.6 Mb homozygous region harboring the DBT gene in an Iranian girl presenting with MSUD. Sanger sequencing revealed a pathogenic homozygous variant (NM_001918.3: c.1174A > C) in the DBT gene. We further found a controversial variant (rs12021720: c.1150 A > G) in the DBT gene. This substitution (p.Ser384Gly) is highly debated in literature. Bioinformatics and cosegregation analysis, along with identifying the real pathogenic variants (c.1174 A > C), lead to terminate these various interpretations of c.1150 A > G variant. CONCLUSION: Our study introduced c.1150 A > G as a polymorphic variant, which is informative for variant databases and also helpful in molecular diagnosis.

Evaluation of the developmental outcome in children with congenital hypothyroidism.

BACKGROUND: Congenital hypothyroidism (CH) is one of the most common endocrine diseases and one of the major causes of mental retardation in children. So we aimed to evaluate the developmental outcome of children with CH. METHODS: This case-control study was performed on two 3-6-year-old groups of 100 patients. The case group was children with CH, referred to Endocrine Clinic of Amirkola Children's Hospital (2011-2017) and the control group was healthy children and normal from other states. The Denver developmental screening test-II (DDST_II) was used to assess the developmental factors and disorders in four areas of gross motor, fine motor, personal-social and language. Data were analyzed by SPSS 21 using descriptive statistics, t-test and chi-square, and a p<0.05 was considered significant. RESULTS: The mean age of 200 children in the case and control groups was 54.62±15.72 and 59.68±15.64 months, respectively. In the case group, 45% and 55% of them had transient and permanent CH, respectively. All four criteria of DDST_II in the control group as well as gross motor in the case group were normal, but fine motor, personal-social and language were reported normal in 94, 95 and 93% of the case group, respectively. All subjects with abnormal DDST_II, had a negative neonatal screening tests. CONCLUSION: The results obtained from DDST_II indicated that 6% of children with CH had an abnormal development, all who had an onset of medical treatment over 30 days, which makes it important to screen the neonatal thyroid disease and diagnose this disease timely.

Evaluation of the Relationship between Salivary Lipids, Proteins and Total Antioxidant Capacity with Gingival Health Status in Type-1 Diabetic Children.

STATEMENT OF THE PROBLEM: Alteration in salivary composition and its effect on the oral cavity in diabetic child patients remains equivocal. PURPOSE: This study was performed to assess the relationship between salivary factors and gingival status in children with type-1 diabetes mellitus (DM). MATERIAL AND METHOD: In this cross-sectional study, 120 subjects aged 6-16 years (60 well-controlled and poorly-controlled diabetics and 60 healthy individuals) were examined to determine the gingival index (GI) and plaque index (PI). The unstimulated saliva samples were collected to measure the salivary triglyceride, cholesterol, albumin, α-amylase, total protein levels by the laboratory kits. Total antioxidant capacity and the free radicals scavenger index were measured by the Ferric Reducing Ability Of Plasma (FRAP) and 1,1-Diphenyl-2-picryl-hydrazyl (DPPH) assays, respectively. Data were analyzed by parametric and non-parametric, Pearson correlation, and t tests at a 5% error level. RESULTS: GI of diabetics was significantly higher than that of healthy individuals (1.51± 0.71 and 0.9±0.81, respectively, p< 0.001). No significant difference was found between the PI of diabetics compared to healthy volunteers (1.59±0.69, 1.63±0.74, respectively). The levels of salivary triglyceride and cholesterol, albumin and total proteins in healthy subjects were significantly higher than that in people with DM (p< 0.001). A significantly more salivary α-amylase activity was found in diabetics compared to non-diabetics (p< 0.001). No significant differences were found between diabetic and non-diabetic subjects in terms of DPPH (95.5, 95.9%, respectively) and FRAP (9.77±0.13, 9.78±0.12 (µmol/mL), respectively). CONCLUSION: More gingival inflammation and salivary α-amylase activity and lower level of salivary lipids, albumin, and total proteins were found in diabetic patients, but there was no association between the level of lipids, proteins, and the total antioxidant capacity of saliva with periodontal health indicators in patients with DM and healthy individuals.

Effect of levothyroxine on cardiac function in children with subclinical hypothyroidism: A quasi-experimental study.

BACKGROUND: Because of the importance of thyroid function and its effect on different organs, such as the heart, this study was aimed to evaluate the effect of levothyroxine on cardiac function in children with subclinical hypothyroidism. METHODS: This quasi-experimental study was performed on children aged 4-12 years old with diagnosis of subclinical hypothyroidism in Amirkola Children's Hospital during 2018-2019. Cardiac functional parameters, including ejection fraction (EF), fractional shortening (FS), ratio of early filling velocity to early diastolic mitral annulus velocity (E/E'), myocardial performance index (MPI), left ventricular end-diastolic diameter (LVEDD), and left ventricular end-systolic diameter (LVESD), were measured by echocardiography at baseline and 6 months after levothyroxine treatment. RESULTS: Out of the 30 subjects, 19 (63.3%) were boys and 11 (36.7%) were girls. The mean age was 6.60±2.13 years old. The mean EF index was 63.13±3.01 percent before treatment, which increased to 69.07±4.50 percent after treatment (p<0.001). Also, the mean FS was 31.83±1.62 percent before treatment, which improved to 35.10±1.13 percent after treatment (p<0.001). The mean MPI was 0.28±0.02 before treatment, which increased to 0.33±0.03 after treatment (p<0.001). On the other hand, no significant difference was found in the mean E/E' before and after treatment. The mean LVEDD decreased from 3.47±0.46 cm before treatment to 3.05±0.40 cm after treatment (p<0.001), whereas LVESD non-significantly decreased after treatment versus before treatment. CONCLUSION: The results showed that treatment with levothyroxine may improve cardiac functional parameters in children with subclinical hypothyroidism.

Beta-ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency.

Beta-ketothiolase (T2, mitochondrial acetoacetyl-CoA thiolase) deficiency is an autosomal recessive disorder of isoleucine catabolism and ketone body metabolism that is characterized by increased urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate, and tiglylglycine. Most patients with T2 deficiency develop their first severe ketoacidotic events between 5 and 24 months of age. We encountered a case of T2 deficiency who developed the first hypoglycemic crisis without ketosis during her neonatal period and repeated such nonketotic hypoglycemic crisis during her infancy and early childhood. This is a very atypical clinical phenotype in T2 deficiency. We finally realized that she also has severe carnitine deficiency which might suppress beta-oxidation resulting in nonketotic hypoglycemia. After carnitine supplementation, she actually developed episodes with ketonuria. Her carnitine deficiency was probably a secondary deficiency which is rare in T2 deficiency but if present, may modify the clinical manifestation of T2 deficiency from ketoacidotic events to hypoketotic hypoglycemic events.

Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.

Methylmalonic acidemia (MMA), an inherited metabolic disease, results from genetic defects in methylmalonyl-CoA mutase or any of the proteins involved in adenosylcobalamin synthesis. This enzyme is classified into several complementation groups and genotypic classes. In this work we explain the biochemical, structural and genetic analysis of 25 MMA patients, from Iran. The diagnosis was established by the measurement of propionylcarnitine in blood using tandem mass spectrometry and confirmed using a gas chromatography-flame ionization detector. Using clinical, biochemical, structural and molecular analyses we identified 15 mut MMA, three cblA, one cblB, and four cblC-deficient patients. Among mutations identified in the MUT gene (MUT) only one, the c.1874A>C (p.D625A) variant, is likely a mut- mutation. The remaining mutations are probably mut0. Here, we present the first molecular analysis of MMA in Iranian patients and have identified eight novel mutations. Four novel mutations (p.D625A, p.R326G, p.V157F, p.F379L) were seen exclusively in patients from northern Iran. One novel splice site mutation (c.2125-3C>G) in MUT and two novel mutation (p.N225M and p.A99P) in the MMAA gene were associated with patients from eastern Iran. The rs184829210 SNP was recognized only in patients with the novel c.958G>A (p.A320T) mutation. This study confirms pathogenesis of deficient enzyme activity in MUT, MMAA, MMAB, and MMACHC as previous observations. These results could act as a basis for the performance of pharmacological therapies for increasing the activity of proteins derived from these mutations.