A couple of the first cousins born with hypotonia and maternal polyhydramnios.

Congenital myotonic dystrophy should be considered in hypotonic infants with polyhydramniotic mothers with a positive history of myotonia. Abstract: Congenital myotonic dystrophy (CDM) is a predominantly maternally inherited disease and results from increased numbers of cytosine, thymine, and guanine (CTG) repeats in the unstable DNA regions and presents as hypotonia in the neonatal period and myotonia in adulthood. This report aims to present two cases of CDM. A first-cousin couple was born and hospitalized due to hypotonia at birth and a maternal history of polyhydramnios during this pregnancy. The first-born baby girl was admitted to the NICU with tachypnea and hypotonia, clubfoot, and frog-like posture. The pregnancy was complicated by polyhydramnios. Interestingly, her first cousin was born the next day with a similar picture and history. Myotonia was detected in their mothers. The concurrent presence of hypotonia and polyhydramnios as well as maternal myotonia in a first cousin should be considered CDM until proven otherwise and this was confirmed by the EMG- NCV test.

The Association between Prolonged Jaundice and TATA Box Dinucleotide Repeats in Gilbert's Syndrome.

INTRODUCTION: Jaundice is a common condition during the neonatal period. Prolonged jaundice occurs in a large number of breastfed infants, considering the impact of genetic factors on the incidence of jaundice. AIM: To determine the association between prolonged jaundice and TATA box dinucleotide repeats in Gilbert's Syndrome (GS). MATERIALS AND METHODS: In this case-control study, the case group consisted of 51 neonates with jaundice, aged more than two weeks with indirect bilirubin level higher than 10 mg/dl. Acute diseases, mother's use of phenobarbital and other medications were the exclusion criteria. The control group consisted of 54 newborns without jaundice. The two groups were matched in terms of age and sex. TATA box polymorphisms in the promoter region of UGT1A1 gene were evaluated using Polymerase Chain Reaction (PCR) in order to determine TATA box dinucleotide repeats. RESULTS: Overall, 64.7% and 50% of subjects in the case and control groups were male, respectively (p=0.168). The mean age of neonates in the case and control groups was 20.1±7.1days and 18.8±4.1 days, respectively. The distribution of Gilbert genome was not significantly different between the two groups. In the case group, 13.7% of the subjects were homozygous, 37.3% were heterozygous and 49% were normal. In the control group, 7.4% of the participants were homozygous, 35.2% were heterozygous and 57.4% were normal. CONCLUSION: The results of this study showed an association between TATA box polymorphism and prolonged jaundice in neonates which revealed that TATA box polymorphism is an important risk to increase and extend icterus.

Correlation between hyperglycemia and retinopathy of prematurity.

BACKGROUND: Several risk factors are attributed to retinopathy of prematurity (ROP). This study was done to determine any association between hyperglycemia and ROP in premature infants. METHODS: In a retrospective case-control analysis, all infants with a gestational age (GA) < 34 weeks and a birthweight (BW) < 2000 g admitted and treated in the Neonatal Intensive Care Unit at Amirkola Children's Hospital, Iran, during March 2007-September 2010 were included. Hyperglycemia was defined as a plasma glucose level of >150 mg/dL during the hospital stay. The duration of being hyperglycemic was also recorded. All of these neonates were examined for ROP by a retinologist unaware of group assignment. The difference in the ROP incidence and also the severity of ROP was compared between the hyperglycemic and non-hyperglycemic infants. Matching was done for GA, BW, and also Clinical Risk Index for Babies score. The data were analyzed by t-test, χ(2) -test and logistic regression test and a P < 0.05 was considered significant. RESULTS: In total, 155 neonates were examined. Seventy (45.2%) of them developed ROP but 85 (54.8%) did not show any evidence of ROP. The frequency of hyperglycemia in patients with ROP was 33 (47.2%), but in those without ROP, hyperglycemia occurred in five (5.9%) (P = 0.0001). The severity of ROP showed no significant differences between the two groups (P = 0.35). The logistic regression for GA and BW showed a significant correlation between hyperglycemia and ROP (P = 0.0001). CONCLUSIONS: Hyperglycemia is an important risk factor for ROP that can be prevented along with other risk factors by accurate supervision.

3-Day versus 5-Day Course of Intravenous Antibiotics for Suspected Early Onset Neonatal Sepsis: A Randomized Controlled Trial.

OBJECTIVE: The objective of this randomized controlled trial was to compare the treatment failure of suspected early onset neonatal sepsis with either 3-day or 5-day course of empirical antibiotic therapy. METHODS: Infants with birth weight over 1500 g and/or gestational age over 34 weeks within 7 days postnatal age with clinical symptoms of neonatal sepsis received empirical antibiotics (Ampicillin + Amikacin) in two neonatal intensive care units. After 72 hours if the result of blood culture was negative and symptoms resolved they were randomly allocated to 3-day or 5-day groups. The main outcome was treatment failure which was defined as reappearance of symptoms of sepsis within two weeks after discontinuation of antibiotics. Infants with congenital anomalies, localized infections, asphyxia, those undergoing surgery or when serum C-reactive protein levels remained abnormal despite treatment, were not included. Randomization was accomplished with simple randomization procedure. FINDINGS: Sixty patients were randomized in a 1:1 ratio to either group. Baseline characteristics were similar between two groups. The follow-up period was 2 weeks with no lost to follow-up. One infant in 3-day group had treatment failure compared with no treatment failure in 5-day group (P=0.5). No serious harm was observed due to our empirical antibiotic regimen. CONCLUSION: The results of this study indicated no evidence that treatment failure differs between 3-day and 5-day course antibiotic therapy for suspected early onset uncomplicated neonatal sepsis in late preterm and term newborns.

Outcomes of very-low-birthweight infants after discharge with a discharge weight of 1500 grams.

BACKGROUND: Discharge of very-low-birthweight (VLBW) neonates from hospital is an important issue and has a standard criterion worldwide. According to this criterion, VLBW infants will be discharged from hospital when weighing 1800-2100 g but in the newborn services at Amirkola Children's Hospital (ACH), VLBW neonates are discharged when reaching 1500 g. The aim of this study was to determine the safety of this policy. METHODS: In this analytic-prospective study, 100 premature neonates with discharging weight (DW) of 1500 g and a control group of 150 neonates with DW of 1600-2500 g were included. Both groups showed similar socioeconomic, perinatal and postnatal conditions. They were admitted and treated in the newborn services at ACH. The outcome variables, including death after discharge, readmission and need for emergency visit for an acute problem up to 3 months after discharge, were studied. The information was analyzed by SPSS-16 software and a P-value < 0.05 was considered significant. RESULTS: Need for emergency visit after discharge reached a significant difference between the two groups (31 in the case group vs 21 in the control group, P= 0.000), but there were no significant differences in the readmission rate and death after discharge (two deaths and 15 readmissions in the case group vs two deaths and 21 readmissions in the control group, P= 0.855) CONCLUSION: In order to decrease the need for emergency visits, we suggest a program of early hospital discharge with home nursing visits and neonatologist support.

Effects of phototherapy on cytokines' levels and white blood cells in term neonate with hyperbilirubinemia.

OBJECTIVE: Phototherapy is the most common treatment used for severe jaundice. There is increasing evidence that phototherapy can directly affect the expression and function of cell surface receptors including adhesion molecules, cytokines, and growth factor receptors. The aim of this study is to investigate the effect of phototherapy use on the levels of interleukin (IL)-1α, IL-6, and tumor necrosis factor (TNF)-α as cytokine expressions from keratinocytes, and also white blood cell counts in the treatment of neonate with hyperbilirubinemia. MATERIALS AND METHODS: We studied 32 term newborns with hyperbilirubinemia. Blood samples were obtained before and 72 h after phototherapy. Serum levels of IL-1α, IL-6, TNF-α, and WBC count were measured in the samples using appropriate methods. RESULTS: Serum TNF-α at 72 h of exposure to phototherapy increased, while the levels of IL-1α and IL-6 at the same time were decreased. These changes were not statistically significant. WBC counts rose significantly with phototherapy. CONCLUSION: Phototherapy in term neonate does not affect cytokines' levels, but can raise peripheral WBC count.