Jui-Hsing Chang

Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988–2004†

Trisomy 18 is the second most common autosomal trisomy in newborns. The birth prevalence of this disorder is approximately 1 in 3,000 to 1 in 8,000, and the life span of the majority of patients is less than 1 year. As information regarding outcome in trisomy 18 is rather fragmentary in the literature, this study is aimed at investigating the survival and natural history of trisomy 18. We also evaluated the survival age and management of trisomy 18 in two different periods, before and after the implementation of National Health Insurance (NHI) program. Thirty‐nine cases of trisomy 18 were collected in Mackay Memorial Hospital in a 17‐year period, from 1988 to 2004. Delivery data, survival age, management before and after the implementation of NHI program, structural defects, image findings and cytogenetic results were analyzed by medical and nurses records. The diagnosis of trisomy 18 was based on the prenatal amniocentesis or postnatal chromosome analysis. Three patients had trisomy 18 mosaicism. Since cardiovascular and central nervous systems are the most common organ systems involved in this disorder, 31 patients received brain ultrasonography and heart ultrasonography for evaluation of their multiple anomalies after admission. All patients except one died in their first year due to severe malformations of the cardiovascular or central nervous systems. The median survival age was 6 days. We found a longer survival with female patients than with male patients (Pu2009<u20090.05). Implementation of NHI program in the more recent decade of this study period was associated with longer survival of trisomy 18 (Pu2009<u20090.05). The three most common structural defects were clenched hands (95%), rocker bottom feet (90%), and low set or malformed ears (90%). Low birth weight was present in 90%. By cardiac ultrasonography, the top four heart defects were ventricular septal defect (94%), patent ductus arteriosus (77%) and atrial septal defect (68%). However, ten cases (32%) had complex congenital heart defects. By brain ultrasonography, the most common brain lesion was cerebellar hypoplasia (32%), followed by brain edema (29%), enlarged cisterna magna (26%) and choroid plexus cysts (19%). Although most patients with trisomy 18 die within the first few weeks after birth, it is important to recognize that a small but notable percentage of these patients will survive the first year. When prenatal or postnatal decisions need to be made, the possibility of long‐term survival should be included in any discussion to enable families to make the most appropriate decision.

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; ≤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.

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).

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.

A Twenty-year Review of Early and Late-presenting Congenital Bochdalek Diaphragmatic Hernia: Are They Different Clinical Spectra?

BACKGROUNDnCongenital 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.nnnMETHODSnWe 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.nnnRESULTSnOf 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.nnnCONCLUSIONnEarly-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.

Clinical Manifestations, Laboratory Findings and Complications of Pediatric Scrub Typhus in Eastern Taiwan

BACKGROUNDnScrub typhus is a clinically important endemic disease in Taiwan. The aims of this study were to analyze the clinical manifestations, laboratory data and complications of pediatric scrub typhus in eastern Taiwan.nnnPATIENTS AND METHODSnWe searched medical records for all patients with scrub typhus who were hospitalized between 1992 and 2002 at the Taitung branch of Mackay Memorial Hospital, Taiwan. Records of children under the age of 18 with a confirmed diagnosis were selected for retrospective review.nnnRESULTSnDuring the study period, 145 patients fulfilled the diagnostic criteria for scrub typhus, of whom 106 (73%) were adults and 39 (27%) were children. The mean age of the children was 7.6+/-4.6 years. The most common clinical manifestations of pediatric scrub typhus were fever (n=39; 100%), cough (n=28; 72%), anorexia (72%), eschar (69%), chill (67%) and lymphadenopathy (64%). The most common complications were hepatic dysfunction (77%) and pneumonitis (54%). Three children (8%) required intensive care, but the overall survival rate was 97%. One child died with multi-organ failure within 8 hours after admission.nnnCONCLUSIONnScrub typhus should be considered in children with fever and hepatic dysfunction, particularly in those with a history of environmental exposure in an endemic area for scrub typhus. The presence of an eschar offers an important diagnostic clue, but not for all cases. Children with scrub typhus may develop serious complications and may even die if appropriate treatment is not given. Doxycycline is an effective antibiotic for pediatric scrub typhus in Taiwan.

Renal Calcification in Very Low Birth Weight Infants

BACKGROUNDnRenal 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.nnnMETHODSnWe 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.nnnRESULTSnSix 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.nnnCONCLUSIONnThe 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.

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%, pu200a=u200a0.002) within 6 months after discharge and 78% (15.7% vs 3.9%, pu200a=u200a0.004) within 12 months after discharge. Compared to the control group, the rate of ICU care significantly decreased from 7.1% to 0.8% (pu200a=u200a0.024) within 6 months after discharge and from 7.9% to 0.8% (pu200a=u200a0.014) 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.

Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome

De Barsy syndrome (DBS) is characterized by progeroid features, ophthalmological abnormalities, intrauterine growth retardation, and cutis laxa. Recently, PYCR1 mutations were identified in cutis laxa with progeroid features. Herein, we report on a DBS patient born to a nonconsanguineous Chinese family. The exceptional observation of congenital glaucoma, aortic root dilatation, and idiopathic hypertrophic pyloric stenosis in this patient widened the range of symptoms that have been noted in DBS. Mutation analysis of PYCR1 revealed compound heterozygous PYCR1 mutations, including a p.P115fsX7 null mutation allele and a second allele with two missense mutations in cis: p.G248E and p.G297R. The effect of mutation results in a reduction of PYCR1 mRNA expression and PYCR1 protein expression in skin fibroblasts from the patient. The findings presented here suggest a mutation screening of PYCR1 and cardiovascular survey in patients with DBS.

Intervention effects on emotion regulation in preterm infants with very low birth weight: A randomize controlled trial

Preterm infants are at risk for emotional difficulties and behavioral problems. This study was aimed to investigate the effects of a clinic-based intervention program (CBIP) and a home-based intervention program (HBIP) compared with a usual care program (UCP) on emotion regulation to stress in preterm infants with very low birth weight (VLBW, birth weight <1500 g). A total of 178 VLBW preterm infants had been previously randomly assigned to receive one of three interventions (57 in CBIP, 63 in HBIP and 58 in UCP). The CBIP and HBIP contained identical child-, parent- and dyad-focused interventions that were provided to infants during hospitalization and were respectively delivered at clinics and at home at PMA 36-38 and 40 weeks, and 1, 2, 4, 6, 9, 12 months of corrected age. All infants were prospectively observed for behavioral reactivity and regulation in response to experimentally evoke stress evoked by a toy-behind-barrier procedure at 12, 18, and 24 months of corrected age. Their cognitive and language abilities, and mothers responsiveness were also assessed at 12 months as potential covariates. Compared to the UCP-group infants, the HBIP-group infants exhibited shorter durations of visual orientation to a toy (adjusted difference [95% CI]=-1.60 [-3.07 to -0.13], p=0.03), and the CBIP-group infants exhibited shorter durations of avoidance (adjusted difference [95% CI]=-0.84 [-1.57 to -0.10], p=0.03) from 12 to 24 months of corrected age. The CBIP and HBIP showed no difference in the stress reactivity from the UCP, however. These results suggest that comprehensive interventions incorporating child-, parent- and dyad-focused services enhanced VLBW preterm infants emotion regulation in response to stress at toddler age.