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Anderson disease, also known as glycogen storage disease type IV (MIM 232500), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme. Glycogen storage disease type IV has a broad clinical spectrum ranging from a perinatal lethal form to a nonprogressive later-onset disease in adults. Here, we report 2 unrelated infants who were born small for their gestational age and who had profound hypotonia at birth and thus needed mechanical ventilation. Both of these patients shared the same frameshift mutation (c.288delA, pGly97GlufsX46) in the GBE1 gene. In addition, both of these patients were found to have 2 different large deletions in the GBE1 gene; exon 7 and exons 2 to 7, respectively, on the other alleles. This case report also highlights the need for a more comprehensive search for large deletion mutations associated with glycogen storage disease type IV, especially if routine GBE1 gene sequencing results are equivocal. [ABSTRACT FROM AUTHOR]

Background:Preeclampsia remains a leading cause of maternal mortality and preterm delivery. Both preeclampsia and bronchopulmonary dysplasia (BPD) of prematurity are associated with impaired angiogenesis. However, the relationship between maternal preeclampsia and BPD remains controversial. This study aims to test whether or not preeclampsia is associated with development of BPD in a cohort of premature infants. Materials and Methods:We conducted a retrospective cohort study assessing the association between preeclampsia and the risk of developing BPD in very-low-birth-weight (VLBW) infants registered in the Premature Baby Foundation of Taiwan from 1997 through 2006. All 21 neonatal departments in Taiwan participated in the data collection. A total of 8,653 VLBW infants were registered in the database. The exclusion criteria included congenital anomalies, chromosome anomalies, infants that died before 36 weeks post-conceptual (PCA), and those whose BPD status were unavailable. BPD was defined as oxygen dependence at 36 weeks postmenstrual age. The association between maternal preeclampsia and BPD was assessed using a multivariate-adjusted logistic regression model. Results:In the end, a total of 5,753 cases were enrolled in this study. The incidence of preeclampsia was 14.7% (n=847) and the overall incidence of BPD was 34.9%. Infants with maternal preeclampsia had a higher gestational age, higher incidence of cesarean section and being small for their gestational age, lower incidence of respiratory distress syndrome, patent ductus arteriosus, and sepsis. BPD occurred significantly less frequently in the maternal preeclampsia group (24.1% vs. 36.7%; adjusted odds ratio: 0.78; 95% confidence interval, 0.62–0.98). Subgroup analysis showed that the association between preeclampsia and BPD was significant only in those VLBW infants with a gestational age between 31–34 weeks. Conclusion:This data supports the association between fetal exposure to maternal preeclampsia and a reduced risk of BPD in relatively mature VLBW infants. [ABSTRACT FROM AUTHOR]

The association between air pollution and infant mortality has been inconsistently reported. A few studies have estimated short-term effects of air pollution on infants' health. This population-based case–control study aimed to examine the potential effects of air pollution on sudden infant death syndrome (SIDS) in the post-neonatal period in Taiwan during 1997–2002. Each case of infant death was matched with 20 randomly selected sex-matched controls who were born on the same day and were still alive. We obtained 24-h measurements of air pollutants and meteorological factors in each case and control with 1- to 14-day lags from 55 air-quality monitoring stations. After controlling for potential confounders, conditional logistic regression analysis was performed to estimate effects of air pollutants on SIDS (n = 398) and respiratory death (n = 121) among neonates. In single- and multi-pollutant models, we found that 100-ppb increment in carbon monoxide (Odds Ratio = 1.04–1.07) and 10-ppb increment in nitrogen dioxide (Odds Ratio = 1.20–1.35) with 1- to 14-day lags were associated with significant increase in SIDS, although a significant relationship between air pollution and respiratory death was not determined in 1- to 14-day lags. Short-term carbon monoxide and nitrogen dioxide exposure were associated with significant increase in SIDS in the post-neonatal period, with latency estimated within days before death. • Use population-based case–control methodology to examine the acute effects of air pollution on the SIDS. • Positive association between CO, NO 2 exposure and SIDS. • Traffic air pollution may play a key factor to SIDS with a latency of days before death. • Negative finding between respiratory death and air pollutant. [ABSTRACT FROM AUTHOR]

Preterm labor is often a sudden event that impacts significantly on the health of the premature infant and on parenting behaviors. The prognosis for premature infants correlates positively with the effectiveness of parenting. Therefore, encouraging parental functions is important. The present paper reviews the literature on the concept of family-centered care in the contexts of premature-infant health problems, assesses the impacts of preterm birth on the parental role, and assesses the influences of parental dysfunction. We suggest that related interventions promote parental function in the five dimensions of parental bonding, confidence reinforcement, stress management, interpersonal support, and pre-discharge preparation. The intervention framework that is developed in the present paper is intended to assist clinical nurses to help parents use positive coping behavior to encourage healthy parental and family function and to promote the health of their premature infant.

Acute intra-abdominal abnormalities requiring emergency laparotomy in extremely low-birth-weight (ELBW) infants may increase morbidity and mortality. Focal intestinal perforations (FIPs) not due to necrotizing enterocolitis (NEC) are increasingly recognized in ELBW infants. We present an ELBW preterm male infant (24 weeks' gestation) with FIP who underwent successful abdominal surgery when the patient weighed 432 g. Three isolated intestinal perforations without any NEC were identified. The patient was stable and weighed 1142 g on the 100th day after surgery. Common morbidities associated with ELBW do not appear to be adversely affected by surgical intervention; however, long-term follow-up is essential to enhance future developmental outcomes upon survival.

We report a case of dilated cardiomyopathy presented in a premature infant of 27 weeks' gestational age. A prenatal sonography revealed left ventricular enlargement. The infant presented with respiratory distress and heart failure soon after birth. Echocardiograms performed after birth showed dilated cardiomyopathy, and endocardial fibroelastosis was suspected. Heart failure progressed despite administration of inotropic agents. The infant died after fifteen days from circulatory failure. Postmortem examination confirmed the diagnosis of endocardial fibroelastosis.

Background: Poor health outcomes among neonates born to aborigines has been reported in many countries. This study was aimed to examine the nationwide characteristics of live births, adverse birth outcomes, and age-specific mortality among neonates born to non-aboriginal and aboriginal parents in Taiwan., Methods: All neonates born alive during the period of 2000 to 2003 in Taiwan were included. The adverse birth outcomes including low birth weight, preterm, and small-for-gestational-age births, and age-specific mortality were obtained. Logistic regression analysis was used to estimate odds ratios for parental ethnicity in relation to birth outcomes, while Cox's proportional hazards regression models were used to estimate hazard ratios for parental ethnicity in relation to age-specific infant deaths., Results: A total of 947,317 live births were included that consisted of 9,381 born to aboriginal mothers, 6,429 born to aboriginal fathers, and 15,354 born to aboriginal parents. There was a gradual increase in the risk of having a baby with low birth weight, preterm, or small for gestational age born to the four parental aboriginal ethnicity groups: non-aboriginal parents, aboriginal mother only, aboriginal father only, and aboriginal parents. Similar trends were also found for early neonatal, neonatal, and infant mortalities after stratification of residential areas. The neonates born to both aboriginal parents with residence in rural or mountain areas were at highest risk of adverse birth outcomes and age-specific mortality., Conclusions: Our results demonstrated that aboriginality and residential area are important risk factors for adverse perinatal and infant outcomes.

Vein of Galen aneurysmal malformation (VGAM) often leads to death in the neonatal period, mainly due to congestive heart failure. Chronic and excessive pulmonary flow in utero and postnatally is attributed to large VGAM and right ventricular overload. We report a male neonate with VGAM complicated by severe heart failure and persistent pulmonary hypertension. Endovascular coil embolization of VGAM was performed, resulting in improvement of congestive heart failure; however, severe persistent pulmonary hypertension led to death 2 days after the embolization. Postmortem examination showed marked right and left ventricular hypertrophy and impressive muscular thickening of intra-alveolar arterioles. Neonatal embolization seems to be beneficial only in babies without suprasystemic pulmonary hypertension. Therefore, early delivery and repair of VGAM should be considered before the onset of persistent pulmonary hypertension.

The incidence of trisomy 18 in monozygotic twins is approximately 1 per million. We report a pair of liveborn monozygotic twins with trisomy 18. Both twins had esophageal atresia with tracheoesophageal fistula (type C) and intrauterine growth retardation. Twin A had cleft lip, choanal atresia and perimembranous ventricular septal defect. Twin B had hypoplastic left heart syndrome. The twins died without aggressive intervention at the age of 2 months and 52 hours, respectively. These 2 babies had significantly discordant phenotypes, which suggests an epigenetic or environmental effect. Bioethical considerations remain important in the care of babies with multiple congenital anomalies.

Background and Purpose: Several lines of evidence suggest that angiogenesis is necessary for alveolarization and that inhibition of vascular growth during a critical period of early growth may impair alveolarization. However, little is known about the role of angiogenic factors during alveolarization. This study investigated the expression patterns of the Ang-Tie-2 family of endothelium-specific receptor tyrosine kinases and vascular endothelial growth factors and their receptors (VEGF-VEGFR system) during postnatal mouse lung development., Methods: The lungs from 3 or 4 mice from groups aged 3, 7, 10 and 14 days and adults were removed and dissected from the main bronchi for reverse transcriptase-polymerase chain reaction (RT-PCR) analysis. Semi-quantitative RT-PCR of mouse lung total RNA was used to measure the expression levels of these angiogenic factors and their receptors., Results: During alveolarization, VEGF/Flk-1, Ang-1, Ang-2, and Tie-2 were up-regulated and PlGF/Flt-1 was kept at a relatively constant level. After alveolarization was completed, PlGF was down-regulated, Flt-1 was up-regulated, and VEGF/Flk-1, Ang-1, Ang-2, and Tie-2 were maintained at relatively high levels., Conclusions: During alveolarization, in mice, VEGF/Flk-1, Ang-1, Ang-2, and Tie-2 are up-regulated and PlGF/ Flt-1 is kept at relatively constant level to promote pulmonary microvascular development. In the adult mouse lung, when most of the vascular network is complete, PlGF is down-regulated and Flt-1 is up-regulated to stop angiogenesis and VEGF/Flk-1, Ang-1, Ang-2 and Tie-2 are kept at relatively high levels to maintain mature pulmonary microvasculature.

The metabolites of reoxygenation accumulate as toxic free radicals during physiological reactions. During an episode of asphyxia, 100% oxygen rather than 21% oxygen is usually used for resuscitation. Excessive free radicals and cell injury may be produced during reoxygenation following the hypoxic event. Prior research has shown that resuscitation with room air (21% oxygen) may be equally effective as 100% oxygen. The side effects are also less with room air. However, evidence-based studies on this topic are limited. It is, therefore, more appropriate to follow the recommendation of Neonatal Resuscitation Program that 100% oxygen should be used during neonatal resuscitation and the oxygen concentration should be adjusted according to the different condition of individual infants.

Neonatal diabetes mellitus (NDM) is a very rare disease defined as hyperglycemia that occurs during the first month of life, requires insulin treatment, and lasts more than 2 weeks. There are 2 types of NDM: permanent neonatal diabetes mellitus (PNDM) and transient neonatal diabetes mellitus (TNDM). We report a case of PNDM in a 3-day-old female infant. This full-term neonate was born small for gestational age. Respiratory distress, poor activity, hypothermia, poor feeding, dehydration, and ketoacidosis were noted at the age of 3 days. After insulin therapy and fluid replacement, her condition became stable. Glucagon test done at the age of 26 days showed serum C-peptide level to be low for her age. During the first year of life she had catch-up growth, but insulin therapy was still required. Serum C-peptide level was undetectable at the age of 15 months. The course of this case indicates the importance of a high index of suspicion for patients with PNDM in order to correct metabolic derangement as early as possible and facilitate normal growth and development under insulin therapy.

Hypercalcemia is occasionally found in newborns with subcutaneous fat necrosis and carries potential life-threatening risk. Bisphosphonates have been recently introduced in the treatment of subcutaneous fat necrosis in newborns. We report a case of extensive subcutaneous fat necrosis in a female infant complicated with intractable hypercalcemia. Standard treatment for hypercalcemia was given, including saline hydration, a low calcium diet, furosemide, and glucocorticoid, but without response. Serum 1,25-dihydroxyvitamin D level was elevated at 126 pg/mL, 25-hydroxyvitamin D level was normal, and intact parathyroid hormone was suppressed at < 1 pg/mL. Oral clodronate disodium, a second-generation bisphosphonate, was administered, and resulted in the normalization of serum calcium, urine N-telopeptide, urine calcium/creatinine ratio, and serum intact parathyroid hormone level. This case suggests that oral clodronate may be an effective treatment for subcutaneous fat necrosis with hypercalcemia in newborns.

Although enteroviruses can cause overwhelming and fatal systemic infections in neonates, such severe neonatal infections remain uncommon and rarely involve both of twin neonates at the same time. We report the cases of twin neonates who developed fever initially, and then progressed to disseminated systemic disease with marked thrombocytopenia, coagulopathy, and hepatic failure. One of the neonates died and the other survived. Both neonates were treated with intravenous immunoglobulin and maternal fresh frozen plasma was also given to the neonate who survived. Virus cultures from the nasopharynx, rectum and cerebral spinal fluid of both neonates yielded enterovirus, later typed as echovirus 30. The surviving neonate had normal development without obvious sequelae during a follow-up period of 1 year. The major determinant of the survival from severe neonatal enterovirus infection might have been the pre-existing severity of the disease before treatment, and complete recovery could be expected if the infant survived the acute stage of illness.

Unilateral pulmonary agenesis with esophageal atresia is a rare condition. Patients with this condition almost die of respiratory failure during early infancy. We describe a case of a premature female infant who has tracheal stenosis, right lung agenesis and esophageal atresia at the same time. Because of respiratory failure, this baby passed away at the age of 39 days.

This study determined the incidence, clinical characteristics, treatment and outcome in extremely low birth-weight (ELBW) premature infants with perforated necrotizing enterocolitis (NEC). We retrospectively reviewed the medical records of ELBW (birth weight <1000 g ) premature infants with perforated NEC diagnosed and managed at National Taiwan University Hospital (NTUH) from January 1993 through December 2000. A total of 8 ELBW premature infants with perforated NEC were collected. The incidence of perforated NEC in ELBW premature infants was 5.1% (8 out of 158). The average age at onset of perforated NEC was 26 days. The most common clinical features were abdominal distention, decreased bowel sound and poor activity level. Dilated and fixed bowel loops, bowel wall thickening and ascites with stool-like substance drainage out from penrose drain tube were the predominant signs at the time of diagnosis of perforated NEC. Thrombocytopenia, elevated C-reactive protein and anemia were the major laboratory findings. All infants received a primary penrose drain in the acute stage of disease. The overall survival rate was 37.5% (3 out of 8). Death occurred due to nosocomial infection with sepsis in 3 patients and due to perforated NEC in 2 patients. Two of the three surviving patients started enteral feeding 19 and 41 days after the diagnosis of perforated NEC and tolerated oral feedings well; the third patient still required total parenteral nutrition two years after diagnosis. Although the clinical characteristics and radiographic findings of perforated NEC in ELBW premature infants were variable, brown color ascites with stool-like substance may be considered a significant sign of perforated NEC despite the absence of free air on radiography at the early stage of disease. Close observation of clinical symptoms and signs, more aggressive surgical intervention and prevention of the following nosocomial infection may have the opportunity to reduce the mortality due to perforated NEC.

Background and Purpose: This study compared the neonatal outcome between infants born after in vitro fertilization (IVF) and after natural conception at National Taiwan University Hospital., Methods: All medical records of women who underwent IVF and gave birth at our hospital from January 1995 to December 1996 were reviewed. The charts of their offspring were also reviewed. We compared the neonatal outcome of infants born after IVF with that of infants born after natural conception. Neonatal outcome was evaluated based on preterm birth, very low birth weight (VLBW), perinatal morbidity, and neonatal mortality., Results: A total of 75 women underwent IVF and gave birth to a total of 100 live newborns and two fetuses with intrauterine death during the 2-year study period. Among these newborns, the prevalence of preterm birth was 28%, of perinatal morbidity was 17%, and of neonatal mortality was 3%, which were significantly higher than those among the 7,736 neonates born after natural conception. However, the rate of VLBW was similar between the two groups. The rate of preterm birth for twin pregnancies were higher than that for singleton pregnancies in both groups., Conclusion: This study showed that infants born after IVF had a higher risk of preterm birth and higher perinatal morbidity and neonatal mortality.

Cockayne syndrome is one of the families of rare progeroid syndromes. We report on two female siblings suffering from Cockayne syndrome. At birth, they both appeared normal, although both demonstrated a low birth weight and breech presentation. The first-born child died at the age of eight months with associated contracted limbs, brain calcification, and photosensitivity. The younger sibling exhibited short stature, microcephaly, a beaked nose and malformed ears, spasticity, photosensitivity, pigmented degeneration of the retina, and psychomotor retardation at the age of six years. Intracranial calcification and the absence of a brain stem-evoked potential were also noted. Testing her skin fibroblasts, which showed a moderate UV sensitivity and a severe deficiency of transcription-coupled repair established the diagnosis of Cockayne syndrome. Genetic counseling was offered for the family.