Infantile Pompe disease treatment with Myozyme in Chaharmahal and Bakhtiari: A case report

Pompe disease is a lysosomal storage disorder that results from an inborn error of metabolism which involves abnormal glycogen storage. Infantile-onset Pompe disease is the most severe phenotype that manifests with the findings of hypotonia, generalized muscle weakness, feeding difficulties, a failure to thrive, hearing loss, hypertrophic cardiomyopathy with systolic dysfunction, and respiratory distress. There is no effective treatment for Pompe disease and clinical control includes primary support health care. However, recent studies have reported that enzyme replacement therapy (ERT) can effectively decrease the symptoms or severity of the disease. The present study is a case report of a 24-day patient with infantile-onset Pompe disease who presented coughing and respiratory distress. The infant experienced fatigue during breastfeeding from the birth and developed dry and nonproductive coughs and perioral cyanosis from two weeks after the birth. The echocardiogram demonstrated left and right ventricular enlargement, mitral and tricuspid regurgitation, and pulmonary hypertension. After definitive diagnosis, the patient was administered with 20 mg/kg of alglucosidase 50 mg vial once every two weeks. He experienced significant improvement in body weight and echocardiogram and symptoms such as fatigue during breastfeeding and perioral cyanosis disappeared completely while he was under Myozyme treatment. In general, the observations confirmed the efficacy of Myozyme in a patient with infantile Pompe disease. Therefore, early diagnosis and quick treatment of Pompe disease with Myozyme can lead to acceptable outcomes, improve conditions, and finally, increase the chance of survival in these patients. Keywords: Pompe disease, Infant, Myozym

Investigation of the effect of early and late breast milk enrichment on growth parameters in preterm infants: A randomized clinical trial

Background and aims: This study aimed to investigate and compare the effect of early and late breast milk fortification on growth parameters in preterm infants. Methods: In this clinical trial, 90 preterm infants (28-32 weeks) admitted to the neonatal intensive care unit (NICU) of Hajar Hospital in Shahrekord, Iran were randomly divided into three groups. The fortification was performed when the milk intake reached 30 (group A), 70 (group B), and 100 cc/kg (group C). The height, weight, and head circumference of newborns were measured at the beginning of birth and 4 weeks after the birth. The incidence of sepsis and necrotizing enterocolitis, and milk tolerance were investigated as well. All analyses were conducted with Stata software, and P valuesResults: The value changes in the height, weight, and head circumference in all three groups at 4 weeks were significant (PPPPP=0.264). Conclusion: The breast milk fortification when the milk intake reached 70 cc/kg had better efficiency on neonatal weight gain compared with the early and delayed fortification

The consistency rate of causes of Death in different components of child mortality Surveillance System in hospitals affiliated with the Shahrekord University of Medical Sciences

Background and aims: Child mortality Surveillance System is Iranian children mortality database nationwide and internationally. The aim of this study was to investigate one of the the most important features of data quality, i.e. Accuracy, through examining the consistency rate between the underlying mortality causes registered in the software and those extracted from medical records among children. Methods: This descriptive, analytical study was performed by census and the medical files of all 104 children aged 1-59 months died between March 21, 2013 and September 22, 2015 in six hospitals affiliated with the Shahrekord University of Medical Sciences were studied. The data were gathered by a researcher-developed questionnaire under supervision of a pediatrician. To investigate the consistency rate of mortality causes, chi-square and Fisher's Exact test and Kappa coefficient in SPSS was used. Results: The consistency rate between the mortality causes registered in the software and the underlying mortality causes extracted from the medical Records, and death certificate was 0.60 and 0.57, respectively. These consistency rates are considered moderate. The consistency rate between the underlying mortality causes recorded in the death certificates and the medical files was derived 0.84, considered an optimal level of consistency. Conclusion: According to the findings, it is essential to develop certain interventions such as training and requiring operators to be adequately tactful for recording underlying mortality causes with reference to death certificates and medical files, hiring operators who are knowledgeable about the international protocols of selection of mortality cause or planning for use of the underlying causes registered in the encoding unit of the software, and enhancing the software and accuracy of information elements registered in the software

The Effect of Oral Ibuprofen on Closure of Patent Ductus Arteriosus in Term Neonates: A Clinical Trial Study

Background The function of ductus arteriosus closes within a few minutes to a few days after birth in term neonates. In some cases, the duct remains open after birth, a condition which is called patent ductus arteriosus (PDA). PDA is associated with high rates of neonatal mortality and morbidity. The present study aims to evaluate the effect of oral ibuprofen on closure of PDA in term neonates. Materials and Methods In this clinical trial, 40 neonates (at the gestational age of 37 weeks and more) aged 5 to 30 days, with confirmed PDA through echocardiography, were randomly divided into two groups (n= 20). One group received ibuprofen syrup (10 mg/kg body weight) in the first 24 hours, followed by 5 mg/kg body weight for the next four days. The other group received placebo in the same manner. On the seventh day after the beginning of intervention, neonates underwent echocardiography for examination of PDA closure. Side effects of ibuprofen were evaluated. Symptoms of kidney failure, such as oliguria, edema, and proteinuria and increased creatinine, as well as gastrointestinal side effects such as gastrointestinal bleeding and recurrent vomiting, were assessed for one month. Results According to the results, PDA diameter was not significantly different in ibuprofen compared to the placebo groups before (p>0.05) and after (p>0.05) intervention. Frequency of PDA closure was 13 (65%) in the ibuprofen group and 10 (50%) in the placebo group with no significant difference (p>0.05). There was no significant difference in the mean systolic and diastolic pressure gradient after intervention and in mean changes in pulmonary arterial hypertension between the two groups (p>0.05). No side effects were observed in any of the groups. Conclusion: Based on the results, oral ibuprofen did not significantly affect PDA closure in term neonates. Keywords:Ibuprofen; Paten t ductus arteriosus; Term neonat

Evaluation of Cardiac Dysfunction in Children and Adolescents with Type 1 Diabetes Mellitus

Background This study was conducted to identify cardiac dysfunction and the relationship of hemoglobin A1c (HbA1c) levels and serum lipids to echocardiographic indices in children and adolescents with T1DM. Materials and Methods: This case-control study was conducted on 100 cases including 50 children and adolescents aged 3-19 years old suffering T1DM for at least two years and 50 age- and sex-matched healthy subjects with the patients. This study was conducted in Shahrekord, Iran. All participants underwent TDI echocardiography and the levels of HbA1C and serum lipid were measured in diabetic patients. Then echocardio function of two groups were compared and the relation between these findings and HbA1C and lipids was evaluated. Data was analyzed using SPSS software (version 23.0). Results: MPI, E/A. E'/A', E wave, A wave, IVRT, ET, EDV, LVIDd and LVIDs were significantly different between diabetes and control groups (P0.05). A significant, positive correlation was observed between E/E' and TG (p=0.007, r= 0.37). E/A showed positive correlation with HDL (p.046, r=0.284) and negative correlation with TG (p = 0.048, r=-0.281), and LDL (P=0.012, r=-0.352). E'/A' showed positive correlation with HDL (p=0.033, r=0.302), and negative correlation with TG (p=0.014, r=-0.347) in diabetic patients. Conclusion In diabetic patients, first, cardiac diastolic function decreases, resulting in a decrease in E'/A and E/A ratios as well as a decrease in myocardial performance index, which indicates systolic and diastolic function, and is recommended to be taken into account in the initial examination of the heart of diabetics and not to wait for late-onset systolic function change. Keywords:Children; Diabetic cardiomyopathy; Diabetes mellitus; Echocardiograp

The Effects of Acetaminophen Prophylaxis on Patent Ductus Arteriosus Closure in Premature Infants: A Clinical Trial Study

Background There is little evidence of the efficacy of acetaminophen prophylaxis in preventing PDA in premature infants. Regarding the effects of acetaminophen in these cases and also safety of this drug in preterm infants, as well as the high prevalence of arterial duct in our population, we aimed to determine the preventive effects of this drug on PDA in preterm infants. Materials and Methods In this clinical trial, 64 premature infants with gestational age less than 31 weeks were randomly divided into two groups including intervention group receiving acetaminophen prophylaxis (10 mg/kg) every 6 hours for 5 days and the control group did not receive any intervention. After 10 days, both groups were assessed by echocardiography regarding the PDA condition. Serum levels of ALT and AST enzymes were also measured 10 days later and simultaneously with doing echoes. Results There was a significant different in the rate of PDA closure across the two intervention and control groups (84.4% versus 50.0%, p = 0.007). After the intervention, open PDA was found in 50% of neonates in control group and 15.6% in intervention group that were treated with ibuprofen and echocardiography was performed again after 1 month. PDA was closed in the remaining 87.5% in the control group and remaining 100% of patients in the intervention group indicating no difference (p = 0.632). The changes in liver enzymes slightly changed after intervention . Conclusion Preventive treatment with acetaminophen can effectively lead to PDA closure in premature infants

Effect of Vitamin D on Insulin Resistance in Overweight and Obese Children and Adolescents With Vitamin D Deficiency

Obesity is one of the major health issues in developed and developing countries, which has been increasing in recent decades. Obesity is one of the important risk factors for type 2 diabetes by developing insulin resistance. The purpose of this study was to investigate the effect of vitamin D on insulin resistance in overweight and obese children and adolescents with vitamin D deficiency. In this interventional study, 53 overweight and obese children and adolescents with vitamin D deficiency referred to the Endocrinology Clinic of Shahrekord University of Medical Sciences were included. The height and weight of participants were measured, and their Body Mass Index (BMI) calculated. To participants, 50,000 units of vitamin D were administered weekly for 8 weeks, and then 1000 units were orally administered daily for 3 months. Before and after the intervention, levels of vitamin D, insulin, and fasting blood sugar were measured. The HOMA-IR was also calculated as an indicator of insulin resistance. After the intervention, serum vitamin D significantly increased, and BMI and fasting blood sugar significantly decreased (P0.05). After the intervention, HOMA-IR had a significant direct correlation with body mass index, insulin, and fasting blood sugar and a significant inverse correlation with vitamin D (P<0.05). Vitamin D had a significant inverse correlation with BMI, insulin, and fasting blood sugar after the intervention (P<0.05). Oral treatment with vitamin D significantly increased serum vitamin D levels and significantly decreased BMI and fasting blood sugar in obese and overweight children

The Effects of Zinc Sulfate on Sepsis Outcomes in Neonates: A Blind Clinical Trial

Background: The present study aimed at assessing the effects of zinc sulfate supplementation on sepsis outcomes in neonates. Methods: This randomized double-blind clinical trial was performed on neonates suffering neonatal sepsis. They were hospitalized in NICU ward at Hajar hospital in Shahrekord, Iran, in 2018. The patients were randomly assigned into two groups receiving a combined therapy of oral zinc sulfate (3mg/kg/day) and antibiotic for ten days (the intervention group, n=30) or routine anti-sepsis antibiotic therapy for the same time (the control group, n=30). The intervention and control groups were matched for baseline variables including gestational age, patients' age, time for beginning the first feeding and baseline anthropometric parameters. Height, weight, head circumference, feeding tolerance time, number of days of oxygenation, number of days hospitalized, NEC, duration of TPN reception, and time at feeding completion in the two groups were compared. Results: In total, 37 males and 23 females participated in this study, 21.7% of whom were born by natural vaginal delivery and others by cesarean section. There was a significant difference between the intervention and control groups in terms of neonates' weight and height, the rate of receiving TPN, Apgar score and nutrition tolerance. The use of zinc sulfate resulted in a significant increase in body weight and height, requiring less TPN use, and also shorter time to achieve nutritional tolerance (P<0.05). Conclusion: The use of oral zinc sulfate (3 mg/kg/day divided for 10 days) in neonates suffering from sepsis improves sepsis-related clinical outcomes, leading to improvements in linear growth and nutrition tolerance, along with shortening the time for TPN

Comparison of the Effect of Oral Acetaminophen and Ibuprofen on Patent Ductus Arteriosus Closure in Premature Infants Referred to Hajar Hospital in Shahrekord in 2016-2017

Background and Aim: Arterial duct in term infants is closed 96 h after birth in normal conditions. In some cases, especially in preterm infants, this duct is not closed after birth, which is called patent ductus arteriosus (PDA). This disease, if left untreated, leads to depressed respiratory capacity and shunt in preterm infants. The aim of this study was to compare the effect of oral acetaminophen and ibuprofen on PDA closure in preterm infants. Materials and Methods: In this clinical trial, 50 infants with a gestational age of < 37 weeks with PDA, confirmed by echocardiography and clinical symptoms, were selected and randomly divided into two groups of 25. One group was orally given acetaminophen at 10 mg/kg body weight (BW) every 6 h for 72 h, and another group received ibuprofen at 10 mg/kg BW on the 1st day and then 5 mg/kg on the 2nd and 3rd days. Before and after the intervention, infants were examined for possible side effects using echocardiography. Results: According to the results before and after the intervention, the PDA diameter was not statistically significant difference between the two treatment groups (P = 0.328 and P = 0.602). Frequency and percentage of the closure of PDA in acetaminophen group were 23 (92%) and in the ibuprofen group 22 (88%) with no statistically significant difference (P = 1.000). The mean levels of blood urea nitrogen, creatinine, and aspartate aminotransferase were not significantly different between the two groups; however, the mean of alanine aminotransferase was higher in the acetaminophen group (P < 0.05). Urine output was normal in both groups; however, the frequency of gastrointestinal complications was higher in the ibuprofen group than in the acetaminophen group (P < 0.05). Conclusion: The results of this study indicate better or equal efficacy of acetaminophen in comparison to ibuprofen to close PDA

Treatment of femoral artery thrombosis with streptokinase and heparin after cardiac catheterization

Background: Thrombosis is the most common complication during cardiac catheterization via femoral artery access. Alongside heparinization, fibrinolytic therapy is recommended if there are signs of ischemia in the lower extremity. Objectives: Given the paucity of data in the existing literature on streptokinase (SK) therapy in pediatrics, we designed this study to assess the efficacy of SK in pediatric patients with diagnosed femoral artery thrombosis following cardiac catheterization. Patients and Methods: The study population initially consisted of 1788 pediatric patients who underwent cardiac catheterization via the femoral artery access. Diminished or absent pulses in the lower extremity were detected in 123 patients, 45 of whom (2.5% of 1788) required treatment and were therefore considered for the next stage of study. Treatment was comprised of post-procedural intravenous heparin, either 50 U/kg/Q4h or 10 - 20 U/kg/h continuously. After heparinization for 24 hours, if the pulse of the affected extremity was not palpable, heparin therapy was continued (heparin-treated group, n = 28), and if the symptoms of femoral artery ischemia were persistent, heparin was discontinued and intravenous SK with a loading dose of 2000 U/kg over 20 - 30 minutes was commenced (SK-treated group, n =17). Results: In the presence of pulselessness in the lower extremity, a maintenance dose of SK (1000 U/kg/h, during 1 - 24 hours) was intravenously administered. Regarding the return of the pulses post-therapeutically, normal and weak/absent pulses were detected in seven (25.2%) and 21 (74.8%) of the 28 patients, respectively, in the heparin-treated group (P value < 0.001), whereas normal and weak/absent pulses were detected in 15 (88.2%) and two (11.8%) of the 17 patients, respectively, in the SK-treated group (P value < 0.001). Conclusions: Our findings demonstrated a high success rate and a low complication rate for systemic SK therapy in femoral artery thrombosis after catheterization