Abstract：
:Glycogen storage disease (GSD) type Ib is caused by the deficiency of glucose-6-phosphate translocase activity. The elder brother of the proband died at age 20 months, and GSD Ia, a disease caused by the deficiency of glucose-6-phosphatase, was the diagnosis. Theproband developed hypoglycemia shortly after birth. Dietary therapy was instituted immediately, but his growth was poor and there were repeated episodes of pyogenic infection. Neutropenia had been observed since 6 months of age, but the diagnosis of GSD Ib was established only at 18 months of age two mutations (c.354_355insC (p. W118fsX12) and c.736T>C (p.W246R)) were detected on his SLC37A4 gene. Regular administration of G-CSF rapidly improved his health and decreased his hospital stay. Although GSD Ib is very rare in Taiwan, correct diagnosis is essential to save the lives of such patients.
journal_name
Pediatr Neonatoljournal_title
Pediatrics and neonatologyauthors
Hsiao HJ,Chang HH,Hwu WL,Lam CW,Lee NC,Chien YHdoi
10.1016/S1875-9572(09)60048-6subject
Has Abstractpub_date
2009-06-01 00:00:00pages
125-8issue
3eissn
1875-9572issn
2212-1692pii
S1875-9572(09)60048-6journal_volume
50pub_type
杂志文章abstract：BACKGROUND:There are few reports on the symptoms of rotavirus infections in neonates. This study aims to describe clinical signs of rotavirus infections among neonates, with a particular focus on preterm infants, and to show the distribution of genotypes in a neonatal intensive care unit (NICU). METHODS:A prospective ...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2011.11.005
更新日期：2012-02-01 00:00:00
abstract：BACKGROUND:Kawasaki disease (KD), first described by Dr. Tomisaku Kawasaki in 1967, was found for the first time in Taiwan in 1976. It continued to occur in increased numbers. For the study of incidence rates and epidemiological features of KD, we conducted five nationwide hospital surveys (NHS) in 1987, 1992, 1994, 20...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2013.05.011
更新日期：2014-04-01 00:00:00
abstract：:Head trauma is one of the most challenging fields of traumatology and demands immediate attention and intervention by first-line clinicians. Symptoms can vary from victim to victim and according to the victim's age, leading to difficulties in making timely and accurate decisions at the point of care. In children, fall...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章,评审
doi：10.1016/j.pedneo.2012.12.011
更新日期：2013-04-01 00:00:00
abstract：BACKGROUND:Asthma is a chronic inflammatory disease of the airways for which current treatments are mainly based on pharmacological interventions, such as glucocorticoid therapy. Our objective was to study the immunoregulatory effects of caffeic acid phenethyl ester (CAPE, a phytochemical synthesized from propolis) on ...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2011.08.005
更新日期：2011-12-01 00:00:00
abstract：:Pneumothorax-associated pneumoretroperitoneum and perirenal air have rarely been reported in infants. We report a case of an extremely low-birth-weight infant who developed pneumoretroperitoneum and perirenal air associated with tension pneumothorax and deteriorated acutely despite prompt pleural water-seal vacuum dra...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2010.12.004
更新日期：2011-02-01 00:00:00
abstract：BACKGROUND:Currently, the pediatrician shortage in Taiwan has raised concerns about pediatricians' workloads and wellbeing. This study aimed to understand in-hospital pediatricians' perceptions toward career satisfaction and their wellbeing. METHODS:A questionnaire exploring pediatricians' life management, commitment ...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2012.11.015
更新日期：2013-06-01 00:00:00
abstract：BACKGROUND:To assess the safety and efficacy of oral propranolol in the management of periocular Capillary Hemangiomas of Infancy (CHI). METHODS:Medical records of 21 infants diagnosed with periocular capillary hemangioma during a period of 5 years from 2009 to 2014 were retrospectively reviewed. The data collected in...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2017.11.021
更新日期：2018-08-01 00:00:00
abstract：BACKGROUND:The indications for ductus arteriosus ligation in very-low-birth-weight infants (VLBWIs) with persistent ductus arteriosus (PDA) are unclear. Increased left ventricular end-diastolic dimension (LVDd) is commonly found in patients with PDA. Here, the enlargement of LVDd in term and preterm neonates without co...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2013.10.009
更新日期：2014-08-01 00:00:00
abstract：BACKGROUND:Circulatory collapse is a very common complication of the critical illnesses in neonates including neonates with hypoxic ischemic encephalopathy; it can be the end result and cause of death of several conditions. Often, despite treatment with fluid resuscitation and vasopressor agents, circulatory collapse p...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2016.09.010
更新日期：2017-12-01 00:00:00
abstract：BACKGROUND:The survival of children with malignant germ cell tumor (GCT) increased over the past 2 decades with platinum-based chemotherapy. This report has three objectives: (1) comparison of PVB (cisplatin, vinblastine, and bleomycin) with JEB (carboplatin, etoposide, and bleomycin) regimens; (2) treatment modality o...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2014.12.003
更新日期：2015-10-01 00:00:00
abstract：BACKGROUND:The study of genetic polymorphisms of surfactant-lipids related genes can help to understand individual variability in the susceptibility to development of pulmonary pathologies. The purpose of this study was to evaluate the association of polymorphisms of surfactant-lipids related genes (LPCAT1, CHPT1 and P...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2019.12.012
更新日期：2020-06-01 00:00:00
abstract：:The prevalence of atopic dermatitis (AD) appears to have increased dramatically over the past decades. It is generally believed that such rapid increase in prevalence cannot be explained fully by genetic factors. Environmental factors might play a role in such an increment. Children with AD are most likely to suffer c...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章,评审
doi：10.1016/j.pedneo.2015.08.005
更新日期：2016-04-01 00:00:00
abstract：BACKGROUND:To evaluate the occurrence of constipation after anorectal malformations (ARM) repair and the results of laxative treatment. METHODS:Between August 2012 and July 2017, the clinical data of patients with ARMs was prospectively collected. The patients were divided into two groups, good types and poor types. G...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2019.05.010
更新日期：2020-02-01 00:00:00
abstract：:An otherwise healthy female baby who had received early postnatal antibiotic prophylaxis because of maternal vaginal group B streptococcal (GBS) colonization died of late-onset GBS meningitis. GBS was isolated from blood and cerebrospinal fluid. Genotyping using pulsed-field gel electrophoresis confirmed that the GBS ...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/S1875-9572(10)60046-0
更新日期：2010-08-01 00:00:00
abstract：:Internal herniation is a rare cause of intestinal obstruction, especially in the emergency department. We report a child with acute abdomen resulting from transmesenteric internal herniation of the small bowel. Radiographic findings revealed gaseous distension of the bowel loops in the upper abdominal area with a pauc...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2012.12.008
更新日期：2014-04-01 00:00:00
abstract：:Trisomy 18 is the second most common chromosomal syndrome and has multiple dysmorphic features. However, ocular findings in trisomy 18 are rarely reported. Retinal folds are the most common ocular finding described to date, although retinal hypopigmentation, dysplasia, and areas of hemorrhage and gliosis are also foun...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/S1875-9572(10)60056-3
更新日期：2010-10-01 00:00:00
abstract：BACKGROUND:Most small muscular ventricular septal defect (M-VSD) types have been diagnosed using color Doppler echocardiography. The purpose of this study was to understand the incidence of small M-VSD in the neonatal period and analyze the natural history of these M-VSDs. MATERIALS AND METHODS:All individuals in our ...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2011.06.003
更新日期：2011-10-01 00:00:00
abstract：BACKGROUND:The aim of this study was to assess the safety and efficacy of colistin use in critically ill neonates. METHODS:This was a case-control study that included newborn infants with proven or suspected nosocomial infections between January 2012 and October 2015, at two centers in Diyarbakir, Turkey. The clinical...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2016.10.002
更新日期：2017-12-01 00:00:00
abstract：BACKGROUND:Human Rhinovirus (HRV) has been identified as the most common cause of acute respiratory infections and hospitalizations in premature children. It is unclear if premature children are more susceptible to HRV due to their decreased pulmonary reserve or because they have enhanced lower airway reactivity to HRV...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2017.04.008
更新日期：2018-06-01 00:00:00
abstract：PURPOSE:To investigate parents' views about new vaccines, we surveyed the attitudes and awareness toward immunization program among parents of children younger than 14 years in Taiwan. METHODS:Parents of children were invited to complete a questionnaire in a tertiary referral medical center in Kaoshiung, southern Taiw...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2011.02.009
更新日期：2011-04-01 00:00:00
abstract：BACKGROUND:To improve the objective assessment of continuous video-EEG (cEEG) monitoring of neonatal brain function, the aim was to relate automated derived amplitude and duration parameters of the suppressed periods in the EEG background (dynamic Interburst Interval= dIBIs) after neonatal hypoxic-ischemic encephalopat...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2018.03.010
更新日期：2019-02-01 00:00:00
abstract：:Pediatric intensive care is now a subspecialty of pediatric medicine. Different pathologic and physiologic processes occur in pediatric patients who require intensive care. Thus, the faculty and staffing requirement differ in many aspects from those of adult intensive care units (ICUs). In Taiwan, pediatric intensive ...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章,评审
doi：10.1016/S1875-9572(09)60061-9
更新日期：2009-10-01 00:00:00
abstract：:Neuromyelitis optica (NMO, Devic's syndrome) is a demyelinating disease of the central nervous system that predominantly affects the spinal cord and optic nerves. It is often confused with multiple sclerosis. Early discrimination between NMO and multiple sclerosis is important because the two diseases have different n...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/S1875-9572(10)60067-8
更新日期：2010-12-01 00:00:00
abstract：BACKGROUND:To examine whether polymorphisms in the VEGFA gene lead to low VEGFA production in peripheral blood and increased risk of NEC in the Chinese Han population. MATERIAL AND METHODS:Thirty NEC patients and 80 control subjects were enrolled. Six VEGFA single-nucleotide polymorphisms (SNPs) were performed using t...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章,评审
doi：10.1016/j.pedneo.2018.07.002
更新日期：2019-04-01 00:00:00
abstract：BACKGROUND:Respiratory distress and patent ductus arteriosus (PDA) in neonates are mutually perpetuating. Contrary to the situation in premature infants, the recognition, clinical relevance and optimal management of PDA in full-term neonates are unclear. The present study aimed to identify PDA as a possible cause of re...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/S1875-9572(10)60030-7
更新日期：2010-06-01 00:00:00
abstract：BACKGROUND:Persistent pulmonary hypertension of the newborn (PPHN) contributes to neonatal hypoxemia and is associated with a high mortality. Some PPHN patients are unresponsive to inhaled nitric oxide (iNO). Bosentan, an oral endothelin-1 receptor antagonist, reduces pulmonary vascular resistance and hence may play a ...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2017.02.003
更新日期：2018-02-01 00:00:00
abstract：BACKGROUND:To compare outcomes of extremely low birth weight (ELBW) infants having different weight losses in the first 3 days of life. METHODS:One hundred and twenty six ELBW infants were evaluated retrospectively for weight loss percentages on the third day of life compared to their birth weight. We examined the wei...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2018.06.003
更新日期：2019-04-01 00:00:00
abstract：:Recently, heated humidified high-flow nasal cannula (HHHFNC) has been introduced and applied as a noninvasive respiratory support in neonates. Although HHHFNC is widely used in neonates presenting with respiratory distress, the efficiency and safety when compared with nasal continuous positive airway pressure or nonin...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章,评审
doi：10.1016/j.pedneo.2016.08.007
更新日期：2017-08-01 00:00:00
abstract：:Interstitial deletion of the proximal short arm of chromosome 4 has rarely been described. This defect is associated with variable clinical manifestations, including mental retardation, unusual facial appearance, and minor limb abnormalities. We describe a girl diagnosed with moderate mental retardation and seizures w...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章
doi：10.1016/j.pedneo.2011.03.009
更新日期：2011-06-01 00:00:00
abstract：:Nystagmus is an involuntary rhythmic oscillation of the eyes, which leads to reduced visual acuity due to the excessive motion of images on the retina. Nystagmus can be grouped into infantile nystagmus (IN), which usually appears in the first 3-6 months of life, and acquired nystagmus (AN), which appears later. IN can...
journal_title：Pediatrics and neonatology
pub_type： 杂志文章,评审
doi：10.1016/j.pedneo.2014.02.007
更新日期：2014-10-01 00:00:00
