Factors That Influence Human Milk Feeding at Hospital Discharge for Preterm Infants in a Tertiary Neonatal Care Center in Taiwan.

Human milk is considered optimal nutrition for newborn infants, especially preterm infants, and it can lessen morbidity in this population. Human milk feeding at hospital discharge may encourage breastfeeding at home. This study evaluated the incidence and predictive factors of human milk feeding of preterm infants at discharge. It included all preterm infants with gestational age of less than 37 weeks who were admitted to the Mackay Memorial Hospital in Taiwan from January to December 2010 who survived to discharge. Infants were classified into a human milk group or a formula milk group. Gestational age, birth weight, length of hospital stay, maternal age, maternal educational status, and morbidity of prematurity were compared between the groups. Of the 290 preterm infants, 153 (52.8%) were being fed human milk at hospital discharge. Compared with the formula milk group, the human milk group had lower birth weights, younger gestational age, higher rates of ventilator use, and longer hospital stays. These differences were not statistically significant for very low-birth-weight (birth weight of <1500 g) infants (n = 66). Multivariate analysis indicated that 2 factors, longer hospital stay and neonatal intensive care unit admission, were associated with human milk feeding at hospital discharge. These findings highlight the need for encouraging and helping all mothers, even those with relatively mature and healthy infants, to provide human milk for their infants.

Outcome of Preterm Infants With Postnatal Cytomegalovirus Infection via Breast Milk: A Two-Year Prospective Follow-Up Study.

Approximately 15% of preterm infants may develop postnatal cytomegalovirus (CMV) infection from seropositive mothers via breast milk and are at risk for neurological sequelae in childhood. The aims of this study were to assess the effects and outcomes on growth, neurodevelopmental status, and hearing in very low birth weight (VLBW) premature infants with postnatal CMV infection via breast milk at the corrected age of 12 and 24 months.The prospective follow-up study population comprised all living preterm children (n = 55) with a birth weight ≤1500 g and gestational age of ≤35 weeks, who had been participated in our "postnatal CMV infection via breast milk" studies in 2000 and 2009, respectively. The cohort of children was assessed at 12 and 24 months. Clinical outcomes were documented during hospitalization and after discharge. Long-term outcomes included anthropometry, audiologic tests, gross motor quotient, Infant International Battery, and neurodevelopmental outcomes; all were assessed at postcorrected age in 12 and 24 months during follow-up visits.Of the 55 infants enrolled in the study (4 noninfected infants were excluded because their parents did not join this follow-up program later), 14 infants postnatally acquired CMV infection through breast-feeding (infected group) and were compared with 41 infants without CMV infection (control group). No significant differences were observed between the groups with regard to baseline characteristics, clinical outcomes, anthropometry, or psychomotor and mental development on the Bayley scale of infant development. None of the infants had CMV-related death or permanent sensorineural hearing loss.Transmission of CMV from seropositive mother via breast milk to preterm infants does not appear at this time to have major adverse effects on clinical outcomes, growth, neurodevelopmental status, and hearing function at 12 and 24 months corrected age.

Prolonged seasonality of respiratory syncytial virus infection among preterm infants in a subtropical climate.

OBJECTIVE: There is limited epidemiological data on the seasonality of respiratory syncytial virus (RSV) infection in subtropical climates, such as in Taiwan. This study aimed to assess RSV seasonality among children ≤24 months of age in Taiwan. We also assessed factors (gestational age [GA], chronologic age [CA], and bronchopulmonary dysplasia [BPD]) associated with RSV-associated hospitalization in preterm infants to confirm the appropriateness of the novel Taiwanese RSV prophylactic policy. STUDY DESIGN: From January 2000 to August 2010, 3572 children aged ≤24-months were admitted to Taipei Mackay Memorial Hospital due to RSV infection. The monthly RSV-associated hospitalization rate among children aged ≤24 months was retrospectively reviewed. Among these children, 378 were born preterm. The associations between GA, CA, and BPD and the incidence of RSV-associated hospitalization in the preterm infants were assessed. RESULTS: In children aged ≤24 months, the monthly distribution of RSV-associated hospitalization rates revealed a prolonged RSV season with a duration of 10 months. Infants with GAs ≤32 weeks and those who had BPD had the highest rates of RSV hospitalization (P<0.001). Preterm infants were most vulnerable to RSV infection within CA 9 months. CONCLUSIONS: Given that Taiwan has a prolonged (10-month) RSV season, the American Academy of Pediatrics' recommendations for RSV prophylaxis are not directly applicable. The current Taiwanese guidelines for RSV prophylaxis, which specify palivizumab injection (a total six doses until CA 8-9 months) for preterm infants (those born before 28(6/7) weeks GA or before 35(6/7) weeks GA with BPD), are appropriate. This prophylaxis strategy may be applicable to other countries/regions with subtropical climates.

A novel six consecutive monthly doses of palivizumab prophylaxis protocol for the prevention of respiratory syncytial virus infection in high-risk preterm infants in Taiwan.

BACKGROUND: Respiratory syncytial virus (RSV) circulates year round in Taiwan. A novel six consecutive monthly doses of palivizumab for RSV prevention protocol has been approved for high risk preterm infants since December 2010. This study aimed to determine the clinical effectiveness and safety of this novel protocol for the prevention of RSV infection. METHODS: From April 2011 to March 2013, we enrolled infants born at ≤28 weeks gestation and infants born at ≤35 weeks gestation with chronic lung disease (CLD) who received palivizumab prophylaxis as study group and followed up for 12 months. Historic control, those who were born and followed up between July 2000 and June 2008, were retrieved for propensity score matching. Primary endpoint was RSV-related hospitalization, and secondary endpoints included the length of hospital stay and intensive care unit (ICU) care. RESULTS: We enrolled 127 infants (108 infants born at ≤28 weeks and 19 infants born at 29-35 weeks with CLD). They completed 6-dose palivizumab as scheduled. Among the study group, the RSV-related hospitalizations were 2 (1.6%) within 6 months and 5 (3.9%) within 12 months after discharge. We matched 127 infants in the control group with 127 infants in the study group by propensity score matching. The reduction of RSV-related hospitalization rates were 86% (10.2% vs 1.6%, p = 0.002) within 6 months after discharge and 78% (15.7% vs 3.9%, p = 0.004) within 12 months after discharge. Compared to the control group, the rate of ICU care significantly decreased from 7.1% to 0.8% (p = 0.024) within 6 months after discharge and from 7.9% to 0.8% (p = 0.014) within 12 months after discharge. Adverse events were recorded in 6.4% injections. CONCLUSIONS: Six monthly intramuscular administration of palivizumab is effective for prevention of RSV hospitalization in regions with no single seasonal peak of RSV infection such as Taiwan.

Functional independence of Taiwanese children with VACTERL association.

VACTERL association is a non-random association of birth defects, which may include anomalies of the vertebral column, limbs, kidneys, and heart; anal atresia; tracheoesophageal fistula; and esophageal atresia. The presence of two or more of the defects establishes the diagnosis. The aim of our study is to describe the functional independence of children with VACTERL association and compare the results to unaffected children. These results will enable clinicians to provide more realistic prognostic information to parents and families. We used the WeeFIM questionnaire to assess the functional skills of 23 patients who had been diagnosed with VACTERL association at Mackay Memorial Hospital, Taipei, Taiwan, from June 1994 to June 2009. The total WeeFIM scores and sub-scores for three domains (self-care, mobility, and cognition) correlated significantly with age (P < 0.01). The scores were generally within the same range as those of unaffected Chinese children, although our subjects had slightly inferior scores on six items, including bowel, chair transfer, stairs, expression, social interaction, and problem solving. In conclusion, the daily functional skills of Taiwanese children with VACTERL association were similar to those of unaffected children.

Screening high-grade vesicoureteral reflux in young infants with a febrile urinary tract infection.

BACKGROUND: The lack of good evidence for improved outcomes in children and young infants with febrile urinary tract infection (UTI) after aggressive treatment for vesicoureteral reflux (VUR) has raised doubts regarding the need for routine voiding cystourethrography (VCUG), and the appropriate imaging evaluation in these children remains controversial. OBJECTIVES: This prospective study aimed to determine whether abnormalities found on acute dimercaptosuccinic acid (DMSA) scan and ultrasound (US) can help indicate the necessity of voiding cystourethrography (VCUG) in young infants. METHODS: For 3.5 years, all infants younger than 3 months presenting with first febrile UTI were prospectively studied. All infants were hospitalized and investigated using US (<3 days after admission), DMSA scan (<5 days after admission), and VCUG (7-10 days after antibiotic treatment) after diagnosis. The association among findings of US, DMSA scan, and VCUG were evaluated. RESULTS: From 220 infants, there were abnormal results in 136 (61.8%) US and in 111 (50.5%) DMSA scans. By US, ten infants (4.5%) with abscess or structural abnormalities other than VUR were diagnosed. High-grade (III-V) VUR was present in 39 patients (17.7%). The sensitivities for high-grade VUR of renal US alone (76.9%) or DMSA scan alone (82.1%) were not as good as that of the "OR rule" strategy, which had 92.3% sensitivity and 94.3% negative predictive value. CONCLUSIONS: To screen high-grade VUR in young infants with febrile UTI, US and acute DMSA scan could be performed first. VCUG is only indicated when abnormalities are apparent on either US or DMSA scan or both.

Renal calcification in very low birth weight infants.

BACKGROUND: Renal calcification in preterm infants has been described frequently. The etiologic factors have not yet been fully clarified. The objective of this study was to evaluate the incidence of and risk factors for renal calcification in our population. METHODS: We retrospectively reviewed the charts of very low birth weight preterm infants during a 1-year period. Renal ultrasound scans were performed at term or before discharge and at a corrected age of 1 year. RESULTS: Six infants (6%) had renal calcification at term or before discharge compared with 96 who did not. Factors significantly associated with renal calcification included gestational age (26 weeks vs. 29 weeks, p=0.006), birth weight (851 g vs. 1141 g, p=0.004), duration of mechanical ventilation (69 days vs. 29 days, p=0.002), length of intensive care (72 days vs. 41 days, p=0.013), furosemide therapy (33% vs. 3%, p=0.027), and dexamethasone therapy (50% vs. 2% p=0.001). Birth weight and dexamethasone therapy had significant independent association after stepwise logistic regression analysis. Sex, oliguria, acidosis, duration of oxygen therapy, length of hospital stay, nutrition status, and nephrotoxic drugs did not differ between the two groups. Three of the six infants had spontaneous remission of renal calcification, whereas two patients without the finding in neonatal stage had renal calcification at a corrected age of 1 year. CONCLUSION: The incidence of renal calcification in very low birth weight infants in this study was relatively low, and the calcification was transient in one-half of the infants. Extremely premature, sick infants requiring long-term ventilation, and those receiving furosemide or dexamethasone were more likely to have renal calcification. Clinicians should be aware that renal calcification may develop beyond the neonatal stage.

The changing face of early-onset neonatal sepsis after the implementation of a maternal group B Streptococcus screening and intrapartum prophylaxis policy--a study in one medical center.

BACKGROUND: Early-onset sepsis (EOS) is the major cause of neonatal morbidity and mortality. Maternal group B Streptococcus (GBS) screening and intrapartum antibiotic prophylaxis (IAP) were implemented in our hospital in 2004. Our aim was to evaluate the effectiveness of the program and changes in pathogens and antibiotic susceptibility. METHODS: The medical charts of mothers and infants with EOS between January 2001 and November 2008 were retrospectively reviewed. EOS was defined as sepsis occurring within 72 hours of birth. Data were pooled and compared for January 2001 through September 2004 (Period 1, without GBS screening) and October 2004 through November 2008 (Period 2, with GBS screening and IAP). RESULTS: The GBS screening rate increased from 10.11% in 2004 to 65% in 2008 and the IAP rate increased from 40% in 2004 to 90% in 2008. The most common EOS pathogen in Period 1 was GBS (45.4%), which decreased to 20% in Period 2 (p=0.081; trend p=0.009). The percentage of EOS because of Escherichia coli in Period 1 was 40.9% but increased to 70% in Period 2 (p=0.059). E coli EOS increased in extremely low birth weight premature babies weighing 500-1000g from Period 1 to Period 2 (p=0.031). The incidence of ampicillin-resistant E coli EOS was relatively high, but no significant change (88.9% vs. 92.9%) after implementation of GBS screening and IAP was noted. CONCLUSION: GBS screening plus IAP is effective in decreasing the incidence of GBS EOS; however, an increase in EOS caused by E coli was noted. Monitoring of pathogens causing EOS is important for effective treatment.

A twenty-year review of early and late-presenting congenital Bochdalek diaphragmatic hernia: are they different clinical spectra?

BACKGROUND: Congenital Bochdalek diaphragmatic hernia (CDH) is easily recognized if it is present shortly after birth. However, cases of delayed CDH presentation are more subtle and therefore less easily diagnosed. METHODS: We retrospectively analyzed 85 patients who were under 18 and diagnosed with CDH between June 1987 and May 2007. Those diagnosed before 1 month of age were categorized as having early-presenting CDH and those diagnosed after 1 month were categorized as having late-presenting CDH. RESULTS: Of the 85 cases, 68 (80%) were early-presenting and 17 (20%) were late-presenting CDH. Respiratory symptoms were more common in early-presenting CDH, while gastrointestinal complaints were more dominant in the late-presenting group, particularly in patients with left diaphragmatic defects. Late-presenting CDH, which was more likely to be associated with chronic gastrointestinal symptoms, was associated with a lower mortality than acute early-presenting CDH with respiratory symptoms, despite the more prompt diagnosis of the latter. The small bowel was the organ most commonly herniated into the thorax. Congenital heart disease was the most commonly associated malformation, but the presence of associated anomalies did not increase mortality. CONCLUSION: Early-presenting CDH shows acute symptoms, is readily diagnosed, and requires prompt intervention to prevent death. In contrast, late-presenting CDH shows more subtle symptoms and is more difficult to diagnose. Although the late-presenting CHD has better prognosis, it still requires surgery intervention to alleviate the symptoms. Clinicians must maintain a high index of suspicion for CDH, regardless of its presentation.

High cytomegalovirus load and prolonged virus excretion in breast milk increase risk for viral acquisition by very low birth weight infants.

BACKGROUND: Breast milk is the main source of postnatal human cytomegalovirus (HCMV) infection. The aim of this study was to assess the relationship between HCMV load in breast milk and viral transmission to very low birth weight (VLBW) infants. METHODS: Breast-fed VLBW infants who were born to HCMV-seropositive mothers and who were managed in a neonatal intensive care unit were enrolled in the study. Blood from mothers and infants was tested for HCMV antibodies after birth. Breast milk was collected for viral culture and HCMV load measurement. Urine from the babies was obtained for HCMV-DNA detection. Symptoms of HCMV infection were recorded and evaluated by neonatologists. RESULTS: Of the 23 evaluated mothers during a 1-year period, 19 were HCMV seropositive; 17 of the women had detectable HCMV-DNA in their breast milk whey. Of the 23 infants born to the 19 seropositive mothers, 8 infants of 8 mothers had HCMV-DNA detected in the urine, indicating that they were infected, even though the breast milk was always frozen prior to feeding. Three infected infants had symptoms. At 4 weeks after delivery, the median viral load in breast milk from mothers of the 8 infected infants was significantly higher than that from mothers of the 15 noninfected infants (P = 0.04). HCMV was detectable in breast milk for a significantly longer period in mothers of infected infants (7.5 vs. 2.6 weeks P = 0.03). CONCLUSIONS: High HCMV load and prolonged virus excretion in breast milk are maternal risk factors for viral transmission to VLBW infants.

Bacterial tracheitis in pediatrics: 12 year experience at a medical center in Taiwan.

BACKGROUND: Bacterial tracheitis may cause life-threatening airway obstruction. METHODS: Records of patients admitted to the pediatric wards of Mackay Memorial Hospital between 1994 and 2005 with a diagnosis of bacterial tracheitis made on bronchoscopic visualization of thick membranous tracheal secretions were retrospectively reviewed. RESULTS: A total of 40 patients (aged 1 month-8 years, 29 [73%] under 3 years old) were included. Cough, fever, dyspnea, and hoarseness were the commonest symptoms. Fourteen patients (21%) required intubation. The most frequently isolated bacteriae were alpha-hemolytic streptococcus (in 11, 38%), pseudomonas (5, 17%), and Staphylococcus aureus (4, 14%). Intubation was more frequent in patients seen between 1994 and 1999 compared with those seen later (8/12 early vs 9/28 late). In the early period alpha-hemolytic streptococcus (55%) and pseudomonas (36%) were isolated. In the later period the most frequently isolated bacteria was alpha-hemolytic streptococcus (28%), followed by S. aureus (22%). No patients died, but those with pseudomonas infection had more severe complications, including tracheal stenosis. The average hospital stay in the early period was 26.2 +/- 20.5 days versus 9.1 +/- 4.8 days in the late period. The corresponding lengths of stay in the intensive care unit were 10.5 +/- 11.5 days and 2.0 +/- 2.2 days. CONCLUSIONS: Bacterial tracheitis requiring hospitalization of children appeared to be milder in the second half of the study period. Pseudomonas tracheitis tends to have a severe course.

Concomitant rotavirus and Salmonella infections in children with acute diarrhea.

BACKGROUND AND PURPOSE: The incidence of concomitant rotavirus and Salmonella infection has been reported to be 1.3% to 7.4%. We designed this study to compare the clinical manifestations in children infected with rotavirus, Salmonella, or both. METHODS: The medical records of admitted children with acute rotavirus or Salmonella gastroenteritis in 2001 were reviewed. They were divided into group R (rotavirus), group S (Salmonella) and group C (concomitant infection with both). The differences of clinical manifestations and laboratory data among the three groups were analyzed via chi-squared, analysis of variance (ANOVA), Bonferroni and Kruskal-Wallis tests, and odds ratios with 95% confidence intervals (95% CI). RESULTS: Among the 895 cases reviewed, 550 were group R, 312 group S, and 33 (3.7%) group C. Group C had more vomiting compared with group S (p = 0.0017). Comparing with group R, group C had more prolonged and high fever (> or = 39 degrees C) (p < 0.05), more percentage of green coloration, with mucus and blood contained in the stool (p < 0.001). The C-reactive protein (CRP) value was significantly higher in group C (9.70 +/- 11.05 mg/dL) than in group R (1.33 +/- 3.62mg/dL) or S (5.22 +/- 6.11 mg/dL) (p < 0.05). Hypokalemia was found most frequently in group C (C: 30.0%, S: 8.8%, R: 7.3%) (p = 0.0026). CONCLUSION: Concomitant rotavirus and Salmonella infections accounted for 3.7% of cases in this study. They had higher CRP as well as incidence of hypokalemia [corrected] In a child with rotavirus gastroenteritis, concomitant infection with Salmonella should be considered if the child has sustained a high fever (> or = 39 degrees C) for over 4 days and a green stool with mucus and blood.

Neonatal gastric perforation: report of 15 cases and review of the literature.

BACKGROUND: Gastric perforation among neonates is a rare but frequently fatal condition of uncertain etiology. The aim of this study was to review the clinical course of neonatal gastric perforation and to evaluate possible prognostic factors. METHODS: We retrospectively analyzed the medical records of 15 patients with neonatal gastric perforation over a 19-year period. Another 97 patients described in the medical literature, for whom the gestational ages and birth weights were clearly stated, were also reviewed. RESULTS: In our series, there were three girls and 12 boys, nine of whom were full-term infants and six preterm infants. The most common initial manifestations were poor activity, abdominal distension, and respiratory distress. The overall mortality was 47% (7/15). Prematurity was the only statistically significant risk factor; 83% (5/6) of premature infants died compared with 22% (2/9) of term babies (p < 0.05). Combining our series with the patients reported in the literature, there were a total of 50 premature infants and 62 term infants. Gastric perforation occurred on postnatal days 2-7 and presented with nonspecific manifestations. The mortality was significantly higher in premature than in term infants (31/50, 62% vs. 16/62, 26%; p < 0.001). A trend towards higher mortality in infants with lower birth weights was observed (>2500 g, 28%; 1501-2500 g, 52%; 1000-1500 g, 60%; <1000 g, 100%). Infants with birth weights <2500 g had a significantly higher mortality than infants with birth weights >2500 g (32/58, 55% vs. 15/54, 28%; p<0.05). CONCLUSION: Neonatal gastric perforation is associated with high mortality, particularly in premature infants. There is also a trend towards higher mortality in lower-birth-weight infants.

Lack of association of the vascular endothelial growth factor gene polymorphisms with Kawasaki disease in Taiwanese children.

INTRODUCTION: Kawasaki disease (KD) is an acute febrile vasculitis of unknown etiology that mainly occurs in infants and children. Clinical and histopathologic findings suggest that vascular endothelial growth factor (VEGF) is involved in the coronary artery lesions (CALs) development in KD. This study hypothesized that specific VEGF gene polymorphisms and their haplotypes are associated with KD susceptibility and CAL development in Taiwanese children. SUBJECTS AND METHODS: The VEGF -2578 A/C, -634 G/C, and +936 C/T single-nucleotide polymorphisms (SNPs) were genotyped in 156 children with KD and 672 ethnically matched healthy controls using the Pre-Developed TaqMan Allelic Discrimination Assay. RESULTS: No significant differences in genotype, allele, carrier, and haplotype frequencies of the three SNPs were found between healthy controls and children with KD or between patients with and without CAL. CONCLUSION: Our data suggest that VEGF -2578 A/C, -634 G/C, and +936 C/T SNPs do not confer increased susceptibility to KD or to CAL development.

Bronchopulmonary dysplasia predicts adverse developmental and clinical outcomes in very-low-birthweight infants.

This study examined the developmental and clinical outcomes in very-low-birthweight (VLBW; < or =1500g) infants with and without bronchopulmonary dysplasia (BPD) throughout infancy, and assessed if BPD predicted poor developmental outcome beyond the effects of other risk factors. One hundred and three VLBW infants (53 males, 50 females; mean gestational age 28wks [SD 2] birthweight 1041g [SD 261]) were graded for severity of BPD according to the American National Institutes of Health (NIH) consensus definition. Neuro-development was assessed using the Neonatal Neurobehavioral Examination-Chinese version, at 36 and 39 weeks' postmenstrual age, and the 2nd edition of the Bayley Scales of Infant Development at 6 and 12 months' corrected age. Clinical outcome was measured by means of rehospitalization for pulmonary causes and treatment with pulmonary medications. Compared with infants without BPD, infants with BPD had higher rates of clinical morbidity, and those with severe BPD further exhibited higher incidences of developmental delay throughout infancy. BPD predicts poor 1-year developmental and clinical outcomes in VLBW infants for which effects are well correlated to the NIH consensus definition.

Neonatal subgaleal hemorrhage: clinical presentation, treatment, and predictors of poor prognosis.

BACKGROUND: Neonatal subgaleal hemorrhage (SGH) is a rare but potentially lethal medical emergency. The objective of the present retrospective study was to clarify the clinical presentation, management, and factors associated with morbidity and mortality. METHODS: The records of all newborns from January 1995 to December 2004 were reviewed for evidence of SGH, based on the presence of a fluctuating hemorrhagic mass that crossed suture lines and extended toward the neck. Characteristics were compared between those with a poor or a good outcome. RESULTS: Forty-two newborns with SGH were identified, 77% having had an instrumental delivery. The incidence was 0.6/1000 deliveries and 4.6/1000 vacuum-assisted deliveries. Thirteen patients (31%) had a poor outcome (five died, four had epilepsy, three with severe auditory dysfunction, two with cerebral palsy, and one with renal vein thrombosis). The group with the poor outcome had significantly more patients who had been transferred from other hospitals (P < 0.001). Those with a poor outcome had significantly more hypotension (P < 0.001) and seizures (P < 0.05). Laboratory findings associated with a poor outcome included anemia, coagulopathy, metabolic acidosis, and renal impairment. Other predictors of a poor prognosis included skull bone fracture, the need for pressors, blood transfusion, ventilator support, intensive care unit admission, and a longer hospital stay. CONCLUSIONS: SGH may be associated with serious complications and death. The condition must be recognized promptly and monitored closely. Those with poor prognostic factors should be referred for intensive care, treated aggressively, and followed in the long term.

Neurodevelopment in very low birth weight premature infants with postnatal subependymal cysts.

The aim of this study was to investigate the neurodevelopmental outcome in very low birth weight infants with postnatal subependymal cysts. During a 3-year period, postnatal subependymal cysts were diagnosed by serial cranial ultrasound in 21 very low birth weight infants born prior to 33 weeks' gestation. These infants and 116 healthy very low birth weight controls were evaluated with the Bayley Scales of Infant Development at 2 years of age. Preterm infants with postnatal subependymal cysts had a significantly lower Psychomotor Development Index (P = .034) and were more likely than the normal group to have motor developmental delay (Psychomotor Development Index <70) (P = .013). The findings indicate that postnatal subependymal cyst is a significant risk factor for impaired motor development in very low birth weight infants (odds ratio 5.73, 95% confidence interval 1.57-20.97).

Prader-Willi syndrome in Taiwan.

BACKGROUND: Prader-Willi syndrome (PWS) is a congenital disorder caused by absent expression of paternal genes in 15q11-13 affecting multiple systems. The information concerning the clinical features of this genetic disorder is incomplete in Taiwan. METHODS: A retrospective analysis was carried out of 70 PWS patients (39 male, 31 females; age range, 1 month-22 years) seen in four major medical centers in Taiwan from January 1980 through June 2005. All cases were confirmed by methylation-specific polymerase chain reaction. The molecular characteristics, birth history, clinical presentation and laboratory studies were analyzed. RESULTS: Complete genetic analysis was performed in 52 of the 70 patients with PWS. The abnormalities found included deletions in 45 (87%), maternal uniparental disomy (UPD) in five (10%), and a probable imprinting center deletion or an imprinting defect in two (4%). The average weight of the patients at birth was 2588 +/- 540 g. Bone age delay of >2 years and growth hormone (GH) deficiency were noted in 11/40 (28%) and 12/20 (60%), respectively. In the 18 in whom both bone age and GH were assessed, abnormalities of both were found in two (11%). In 2000, Taiwan instituted the Rare Diseases and Orphan Drugs Act and mandated a three-phase screening protocol for PWS. Of the 41 patients diagnosed with PWS before 2000, only four (10%) were diagnosed before the age of 3 months; in the 29 patients diagnosed after 2000, in 15 (52%) the syndrome was confirmed before 3 months of age (P < 0.001). CONCLUSIONS: The present finding is in contrast to that of most previous reports that indicated a higher incidence of UPD in PWS. It is unclear whether this discrepancy in the incidence of UPD arises from under-diagnosis or because of ethnic differences, a question worthy of further study. The three-phase screening protocol has generated notable improvement in the early diagnosis of PWS in Taiwan.

Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004.

BACKGROUND: This study investigated the survival and natural history of trisomy 13 in a series of patients, comparing the management and outcome before and after the implementation of Taiwan's National Health Insurance program (NHI). METHODS: A total of 28 cases of trisomy 13 seen at Mackay Memorial Hospital, Taipei, Taiwan, from 1985 to 2004 were retrospectively reviewed. Survival and management before (12 cases) and after (16 cases) the implementation of National Health Insurance were compared, and structural defects, imaging findings, and cytogenetic results were analyzed. The cases that were diagnosed prenatally, and finally terminated, were excluded from this study. The diagnosis of trisomy 13 was based on the postnatal chromosome analysis. RESULTS: All patients except one with trisomy 13 translocation died in their first year because of severe malformations of the cardiovascular or central nervous system. The median survival was 9 days. After implementation of National Health Insurance, survival with trisomy 13 was significantly longer than before (P < 0.05). The three most common structural defects were abnormal auricular helices or low-set ears (89%), cryptorchidism and abnormal scrotum of male (73%) and cleft lip and/or palate (71%). Using echocardiography, the most commonly detected heart defects were patent ductus arteriosus (68%), ventricular septal defect (50%) and atrial septal defect (50%), and eight cases (36%) had complex congenital heart defects. The most common brain lesion was lenticulostriate vasculopathy (22%), followed by holoprosencephaly (17%), brain edema (13%) and subependymal cyst (13%). CONCLUSIONS: Early diagnosis and the survival patterns from the data collected should be used to inform parents and health-care professionals to assist in decision making. Although most patients with trisomy 13 die within the first weeks after birth, it is important to recognize that a few may survive the first year. When counseling families, the long-term survival prospects of trisomy 13 patients should be included.

Genetic variations of HLA-DRB1 and susceptibility to Kawasaki disease in Taiwanese children.

Although some previous studies have reported that genetic and immunologic factors play important roles in the pathogenesis of Kawasaki disease (KD), the etiologic factors of this enigmatic pediatric disease are still poorly understood. The purpose of this study was to investigate whether polymorphisms of the human leukocyte antigen DRB1 (HLA-DRB1) gene are associated with KD and the development of coronary artery lesions (CAL) in Taiwanese children. Genomic DNA was extracted from whole blood samples from 145 children with KD and 331 healthy controls. The HLA-DRB1 gene was genotyped by polymerase chain reaction (PCR) and sequence-based typing assays. We found that the distribution of HLA-DRB1 allele families and alleles in children with KD did not differ from that in healthy controls. Stratified analysis did not demonstrate any association between particular HLA-DRB1 allele families or alleles and the development of CAL in children with KD. These findings suggest that susceptibility to KD and CAL is not associated with the HLA-DRB1 gene in a Taiwanese population. If immunogenetic determinants are involved in this disease and its complications in Taiwanese children, they must involve genes other than HLA-DRB1.