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BACKGROUND Stroke is one of the leading causes of death and disability worldwide. In patients suffering from strokes and other acute brain injuries, the prevalence of pituitary dysfunction is high, and growth hormone deficiency is commonly found. Previous studies have demonstrated that administration of recombinant human growth hormone provides adult growth hormone deficiency (AGHD) patients with beneficial effects such as improving body compositions and quality of life. Nevertheless, other physiological benefits of growth hormone substitution are still controversial and inconclusive. CASE SUMMARY A female with a history of hypertension suffered intracranial hemorrhage, intraventricular hemorrhage, and hydrocephalus at 56 years of age. Her mobility, fluency of speech, and mentality were impaired ever since the event occurred. After five years, the 61-year-old patient was further diagnosed with AGHD and received six-month growth hormone replacement therapy (GHRT). After six months of GHRT, the patient’s body composition was improved. A substantial improvement in Mini-Mental State Examination score was also observed, accompanying with ameliorations in mobility, fluency of speech, and mentality. CONCLUSION In addition to improvements in body composition, GHRT for AGHD may provide further beneficial effects in patients with cognitive or motor impairments due to intracerebral hemorrhage.

Many studies have reported that prenatal exposure to endocrine-disrupting chemicals (EDCs) can cause adverse behavioral effects or cognitive dysfunction in children. This study aimed to investigate a relationship of the concentration of prenatal EDCs and brain function in teenagers. We recruited 59 mother-child pairs during the third trimester of pregnancy, and collected and examined the concentration of EDCs, such as heavy metals, phthalates and perfluoroalkyl substances (PFASs), in maternal urine and serum. Resting-state functional magnetic resonance imaging (rs-fMRI) data were collected in teenagers 13-16 years of age, and fractional amplitude of low-frequency fluctuation (fALFF) and regional homogeneity (ReHo) were performed to find the association between maternal EDC concentrations and the functional development of the teenage brain. We found a correlation between MBP concentration and activity in the superior frontal gyrus, middle frontal gyrus, middle temporal gyrus and inferior temporal gyrus in the combined group of boys and girls. We also observed a correlation between MBzP concentration and activity in the anterior cingulum gyrus and insula in girls. We found a correlation between lead concentration and activity in the cuneus in the combined group. We also observed a correlation between MeHg concentration and activity in the superior temporal gyrus, caudate nucleus and putamen in the combined group. The PFOS results revealed a negative relationship between activity in the right putamen in boys, girls and the combined group after phthalate or heavy metals were applied as covariates. The PFNA results showed a negative correlation between activity in the left/right putamen and left caudate nucleus in boys, girls and the combined group after phthalate, heavy metals or PFOS were applied as covariates. We examined the correlations between maternal EDC concentrations and brain development and found that the associations with resting-state teenage brains in some circumstances are sex-related.

Background: Minimally invasive surfactant therapy (MIST) is a new mode of surfactant administration without intubation to spontaneously breathing preterm infants with respiratory distress syndrome (RDS). The aims of this study were to assess the feasibility, efficacy and safety of using MIST to give surfactant for very low birth weight (VLBW) infants with RDS. Methods: In total, 53 VLBW infants who were born before 32 gestational weeks with spontaneous breathing, respiratory distress, and requiring surfactant therapy were divided into two groups. The infants in group A (n = 29) were intubated and received surfactant replacement therapy via endotracheal tube, followed by mechanical ventilation (MV). The infants in group B (n = 24) received tracheal instillation of surfactant via a semirigid vascular catheter during spontaneous breathing under nasal continuous positive airway pressure (nCPAP). After surfactant instillation, the infants in group B were still placed on nCPAP. Results: Our data showed that infants in group B (MIST group) had significantly lower rate (P

Background: Silver–Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder characterized by severe intrauterine growth retardation, poor postnatal growth, characteristic facial features, and body asymmetry. Hypomethylation of the imprinted genes of the chromosome 11p15.5 imprinting gene cluster and maternal uniparental disomy of chromosome 7 (mUPD7) are the major epigenetic disturbances. The aim of this study was to characterize the epigenotype, genotype, and phenotype of these patients in Taiwan. Methods: Two hundred and six subjects with clinically suspected SRS were referred for diagnostic testing, which was performed by profiling the methylation of H19-associated imprinting center (IC) 1 and the imprinted PEG1/MEST region using methylation-specific multiplex ligation-dependent probe amplification and high-resolution melting analysis with a methylation-specific polymerase chain reaction assay. We also applied a whole genome strategy to detect copy number changes and loss of heterozygosity. Clinical manifestations were recorded and analyzed according to the SRS scoring system proposed by Bartholdi et al. Results: Among the 206 referred subjects, 100 were classified as having a clinical diagnosis of SRS (score ≥ 8, maximum = 15) and 106 had an SRS score ≤ 7. Molecular lesions were detected in 45% (45/100) of the subjects with a clinical diagnosis of SRS, compared to 5% (5/106) of those with an SRS score ≤ 7. Thirty-seven subjects had IC1 hypomethylation, ten subjects had mUPD7, and three subjects had microdeletions. Several clinical features were found to be statistically different (p &lt, 0.05) between the “IC1 hypomethylation” and “mUPD7” groups, including relative macrocephaly at birth (89% vs. 50%), triangular shaped face (89% vs. 50%), clinodactyly of the fifth finger (68% vs. 20%), and SRS score (11.4 ± 2.2 vs. 8.3 ± 2.5). Conclusions: The SRS score was positively correlated with the molecular diagnosis rate (p &lt, 0.001). The SRS subjects with mUPD7 seemed to have fewer typical features and lower SRS scores than those with IC1 hypomethylation. Careful clinical observation and timely molecular confirmation are important to allow for an early diagnosis and multidisciplinary management of these patients.

Previous studies have indicated that prenatal exposure to endocrine-disrupting chemicals (EDCs) can cause adverse neuropsychiatric disorders in children and adolescents. This study aimed to determine the association between the concentrations of prenatal EDCs and brain structure changes in teenagers by using MRI. We recruited 49 mother–child pairs during the third trimester of pregnancy, and collected and examined the concentration of EDCs—including phthalate esters, perfluorochemicals (PFCs), and heavy metals (lead, arsenic, cadmium, and mercury)—in maternal urine and/or serum. MRI voxel-based morphometry (VBM) and generalized q-sampling imaging (GQI) mapping—including generalized fractional anisotropy (GFA), normalized quantitative anisotropy (NQA), and the isotropic value of the orientation distribution function (ISO)—were obtained in teenagers 13–16 years of age in order to find the association between maternal EDC concentrations and possible brain structure alterations in the teenagers’ brains. We found that there are several specific vulnerable brain areas/structures associated with prenatal exposure to EDCs, including decreased focal brain volume, primarily in the frontal lobe, high frontoparietal lobe, temporooccipital lobe and cerebellum, and white matter structural alterations, which showed a negative association with GFA/NQA and a positive association with ISO, primarily in the corpus callosum, external and internal capsules, corona radiata, superior fronto-occipital fasciculus, and superior longitudinal fasciculus. Prenatal exposure to EDCs may be associated with specific brain structure alterations in teenagers.

Background Adherence to growth hormone therapy is difficult to detect reliably. Devices such as easypod have been developed for electronic recording of injections. The easypod connect observational study (ECOS) was an open-label, observational, multinational, phase IV study conducted in 24 countries around the world. The final results from ECOS in the Taiwanese cohort are reported in this paper. Objective This study aimed to evaluate the adherence and long-term outcomes of growth hormone therapy in pediatric subjects using the easypod electromechanical device. Methods Subjects (aged 2-18 years or >18 years without fusion of growth plates) who received Saizen (recombinant human growth hormone, somatropin) via the easypod device were enrolled in this study. The primary objective was to assess the level of adherence in subjects receiving Saizen via easypod. Results In Taiwan, a total of 35 and 13 children fulfilled the criteria of full analysis set and complete analysis set, respectively. The mean (SD) age of the complete analysis set was 12.08 (2.72) years. All subjects were growth hormone–naïve, with 38% (5/13) females. The mean adherence rates of 13 subjects were 87.6% at 3 months and 84.3% at 6 months, that of 8 subjects was 81.0% at 9 months, and that of 4 subjects was 91.6% at 1 year. After 1 year of treatment, subjects had a median (Q1:Q3) change in height SD score of 0.30 (0.06:0.48), median height velocity of 6.50 (4.33:8.24) cm/year, and median change in height velocity SD score of 1.81 (–0.04:3.52). Conclusions With the easypod device, patients with inadequate adherence and poor response to treatment can be identified. Adherence to growth hormone therapy administered via easypod was generally high in the first year of treatment but the adherence gradually decreased over time. Overall, growth outcomes after 1 year indicated a positive growth response to growth hormone treatment. Future efforts should be focused on personalized management of adherence by using the easypod system.

Background The prevalence of allergic diseases in children has increased globally. Early-life exposure to inorganic arsenic has been found to be associated with impaired immune function and decreased lung function in children; however, the results are inconsistent. We aimed to evaluate the effect of prenatal and childhood exposure to inorganic arsenic on allergic diseases in children, through a 15-year follow-up birth cohort study, conducted in central Taiwan. Methods Children born to women enrolled in the Taiwan Maternal and Infant Cohort Study (TMICS-pilot) from December 2000 to November 2001 were recruited and followed every 2–3 years until the age of 14 years. Urinary specimens were collected in the pregnant women during the 3rd trimester and the followed children. Diagnoses of allergic diseases were based on physician diagnoses using the International Study of Asthma and Allergies in Childhood questionnaire. Urinary arsenic speciation was performed using high-performance liquid chromatography and inductively coupled plasma dynamic reaction cell mass spectrophotometry. Results Of the 261 children from 358 mother-infant pairs for this study, those with asthma and allergic rhinitis reported a higher prevalence of maternal allergy (49.47%) than did non-allergic children (29.81%). In the fully adjusted model, levels of maternal urine (iAs + MMA + DMA) greater than the median were found to be significantly associated with an increased risk of asthma (OR = 4.28; 95% CI 1.32, 13.85). Levels of urinary (iAs + MMA + DMA) in children higher than the median were associated with an increased risk of allergic rhinitis (OR = 2.26; 95% CI 1.20, 4.26). Conclusion Prenatal and childhood exposure to inorganic arsenic were found to be significantly associated with the occurrence of asthma and allergic rhinitis in children, respectively. Further large cohort follow-up studies are important to validate the association between inorganic arsenic exposure and allergic diseases in children.

Objective: Children with precocious puberty (PP) may have increased physiological and psychological problems. In this study, we aimed to explore the trend of parents seeking medical care for their children with precocious puberty. Methods: The Taiwan National Health Insurance Research Dataset (NHIRD) was used to estimate the prevalence (2000&ndash, 2013) and incidence (2002&ndash, 2013) of PP (ICD-9 code: 259.1) among boys aged 0&ndash, 11 years and girls aged 0&ndash, 10 years. The proportions of PP management within 1 year from the date of first diagnosis were also compared between two periods (2002&ndash, 2007 and 2008&ndash, 2012). The trends of PP prevalence or incidence were determined by join-point regression. Results: In 2000, 309 boys and 2706 girls had at least one visit for PP, the crude prevalence rates (per 10,000 persons) were 0.99 (95% confidence interval, 95% CI 0.87&ndash, 1.14) and 13.56 (95% CI 13.01&ndash, 14.13) in boys and girls, respectively. In 2013, the crude prevalence rates increased to 7.01 (95% CI 6.56&ndash, 7.84) and 110.95 (95% CI 108.97&ndash, 112.96) in boys and girls, respectively. A total of 2584 girls and 207 boys with incident PP cases were identified in 2002, and 7498 girls and 739 boys were identified in 2013. For girls, the incidence rates (per 10,000 person-years) were 16.17 (95% CI 15.55&ndash, 16.80) and 70.23 (95% CI 68.65&ndash, 71.83) in 2002 and 2013, respectively. For boys, the incidence rates were 1.09 (95% CI 0.95&ndash, 1.24) and 5.72 (95% CI 5.32&ndash, 6.15) in 2002 and 2013, respectively. The sex ratio (F:M) of the incidence of PP cases was 14.89 in 2002 and 12.28 in 2013. Conclusion: In this study, from 2000 to 2013, the frequency of visiting pediatric endocrinology outpatient clinics for precocious puberty increased in both genders. We advocate that it is important to pay increased attention to children&rsquo, s health, environmental hormones, and diet. Researchers should consider how to survey precocious puberty and offer parents more education to avoid the waste of medical resources or delays in seeking medical care.

Phthalic acid esters (PAE) are widely used during chemical synthesis and do not form covalent linkages with products. It has been reported that exposure to PAE affects the immune response. However, their effect on antibody concentrations in children is still under investigation. We aimed to examine the association between early-life phthalate exposure and antibody concentrations in children in a longitudinal birth cohort established in 2000–2001. We recruited 398 neonates in central Taiwan and followed them up every 2–3 years, with various antibody-related studies at 11- and 14-year follow-ups. Seven urinary phthalate metabolites were quantified in mothers during pregnancy and children aged 11 years. Four antibody concentrations were analyzed in children aged 11 and 14 years. The percent change in antibody concentrations from ages 11 to 14 years was calculated and its association with phthalate exposure was evaluated via multivariate regression analysis. Eighty-one followed-up children were with sufficient data. After adjusting for prenatal exposure and other confounders, double concentrations of the urinary sum of di-2-ethylhexyl phthalate (ΣDEHPm) and mono-n-butyl phthalate (MnBP) were associated with a 18.06% (95% CI = 3.34%, 32.78%) and 22.53% decrease (95% CI = 3.39%, 41.66%) in antibody concentration against hepatitis B, respectively. Phthalate exposure was found to be related to decreased antibody concentrations against hepatitis B (DEHP, DBnP) in the early teens. This exposure is suggested to be considered for clinical re-booster vaccines among junior high school students. Further verification with additional cohorts and studies on the underlying mechanisms of phthalate exposure are warranted.

Background Insulin and insulin-like growth factor (IGF)-1 coupled with growth hormone helps control timing of sexual maturation. Mutations and variants in multiple genes are associated with development or reduced risk of central precocious puberty (CPP). Methods We assessed single nucleotide polymorphisms (SNPs) in the IGF-1, IGF-2, IGF-3, IGF-1 receptor (IGF1R), IGF-2 receptor (IGF2R), and IGF -binding protein 3 (IGFBP-3) genes, and their association with demographics and metabolic proteins in girls with CPP. Z-scores of height, weight, and body mass index (BMI) were calculated with the WHO reference growth standards for children. Results IGF-1 serum levels of CPP group exhibited a higher correlation with bone age, z-scores of height and weight, and luteinizing hormone (LH) than those of control group, regardless of BMI adjustment. In the CPP group, height was associated with IGF-2(3580), an adenine to guanine (A/G) SNP at position + 3580. BMI in the CPP group was associated with IGF-2(3580), IGF1R, and the combinations of [IGF-2(3580) + IGF2R], and [IGF-2(3580) + IGFBP-3]. Body weight in the CPP group was associated with the combination of [IGF-2(3580) + IGFBP-3] (p = 0.024). Weight and BMI were significantly associated with the combination of [IGF-2(3580) + IGF2R + IGFBP-3] in the CPP group. These associations were not significantly associated with z-scores of weight, height, or BMI. The distribution of these genotypes, haplotypes, and allele frequencies were similar between control and CPP groups. Conclusions These known SNPs of these IGF-1 axis genes appear to play minor roles in the risk for development of CPP.

Background: Inorganic arsenic (iAs) exposure potentially causes diabetes and cardiovascular diseases in adults. However, its effect on glucose and lipid metabolism in early life remains unknown. Objective: We evaluated the associations between early-life arsenic exposure and profiles of glucose and lipids in a 15-year birth cohort in central Taiwan. Methods: We studied 237 adolescents through 5 waves of follow-up interviews and examinations at ages of approximately 2, 5, 8, 11, and 14 y. We obtained at least one follow-up urine measurement for arsenic species and blood sample collection up to 14 y of age and identified group-based trajectories of serial iAs by semiparametric mixture modeling. Multiple linear and logistic regressions were performed to assess the effect of the arsenic exposure trajectory on serum fasting glucose, total cholesterol (TCHO), triglycerides (TGs), low-density lipoprotein cholesterol (LDL), and high-density lipoprotein cholesterol (HDL). Results: Three trajectories of postnatal arsenic exposure were identified, namely stable-low (31.4%), stable-high (48.2%), and rising-high (20.4%) groups. Compared with the stable-low trajectory group, the percent changes in TCHO and LDL was 14% (95% confidence interval 4–24%) and 23% (9–38%) for the group with “rising-high” trajectory and was 8% (−1–16%) and 16% (4–29%) for the group with “stable-high” trajectory. The rising-high group was also associated with an increase in the TCHO/HDL ratio by 14% (95% CI 3%–25%). The adjusted odds ratios of high developmental trajectories of TCHO, TG, LDL, and non-HDL levels were 4.0 (95% CI 1.2–13.7), 12.2 (2.2–67), 7.3 (1.8–30), and 3.6 (0.9–14.6), respectively, in the rising-high group (reference: stable-low group). Conclusion: Our findings suggest that conversion to an atherogenic lipid profile in adolescents may be associated with early-life exposure to environmental arsenic, particularly during the pre-adolescent period. An environmental modification approach for preventing As-related cardiovascular disease is recommended to begin early in life. Keywords: Arsenic, Lipid profile, Birth cohort, Trajectory, Glucose metabolism, Insulin resistance

Phthalates are widely used in industry, personal care products, and medications. Recent studies have suggested that phthalate exposure alters thyroid hormones. However, longitudinal studies concerning the association between phthalate exposure and thyroid function in children are scant. Therefore, we examined the association between pre- and postnatal phthalate exposure and thyroid function in children born in 2000-2001.We studied 181 mother-child pairs in central Taiwan and followed-up the children from 2000 to 2009 at 2, 5, and 8 years old. We measured serum levels of thyroxine (T4), free T4, triiodothyronine (T3), and thyroid-stimulating hormone in children by using radioimmunoassay. We quantified seven phthalate metabolites, representing the five most commonly used phthalates, in maternal and child urine samples by using liquid chromatography-tandem mass spectrometry. The metabolites were monoethylhexyl phthalate (MEHP), mono-(2-ethyl-5-hydroxyhexyl) phthalate (MEHHP), mono-(2-ethyl-5-oxohexyl) phthalate (MEOHP) derived from di(2-ethylhexyl) phthalate (DEHP), monomethyl phthalate (MMP), monoethyl phthalate (MEP), monobutyl phthalate (MBP), and monobenzyl phthalate (MBzP). We constructed a linear mixed model to examine these associations after adjustments for covariates.The T4 levels were inversely associated with maternal urinary MEHHP (β = -0.028 [95% confidence interval (CI) = -0.051, -0.006]) and MEOHP (β = -0.027 [-0.050, -0.003]), with similar T3 levels being observed in boys, even when the children exposure levels were considered spontaneously. In the girls, the free T4 levels were inversely associated with levels of maternal urinary MEP (β = -0.042), maternal urinary MBzP (β = -0.050), and children's urinary MEHP (β = -0.027).Early life phthalate exposure was associated with decreased thyroid hormone levels in young children.

Background: Perfluorocarboxylic acids (PFCAs) are environmentally and biologically persistent synthetic chemicals. PFCAs include perfluorooctanoic acid (PFOA; C8) and long-chain PFCAs (C9–C20). Studies examining long-chain PFCAs and fetal and postnatal growth are limited. Objectives: We investigated the associations of prenatal exposure to long-chain PFCAs with fetal and postnatal growth. Methods: For 223 Taiwanese mothers and their term infants, we measured PFOA and four long-chain PFCAs (ng/mL) in third-trimester maternal serum; infant weight (kg), length and head circumference (cm) at birth; and childhood weight and height at approximately 2, 5, 8, and 11 years of age. For each sex, we used multivariable linear regression to examine associations between ln-transformed prenatal PFCAs and continuous infant measures, and logistic regression to examine small for gestational age (SGA). Linear mixed models were applied to prenatal PFCAs and childhood weight and height z-scores. Results: In girls, prenatal perfluorononanoic acid (PFNA), perfluorodecanoic acid (PFDeA), perfluoroundecanoic acid (PFUnDA), and perfluorododecanoic acid (PFDoDA) concentrations were inversely associated with birth weight [e.g., βbirth weight (kg) = –0.06, 95% CI: –0.11, –0.01 per 1 ln-unit PFUnDA increase]; prenatal PFDeA and PFUnDA were associated with elevated odds of SGA; and PFDeA, PFUnDA, and PFDoDA were associated with lower average childhood height z-score. In boys, prenatal PFNA, and PFDoDA were associated with reductions in height at certain ages in childhood, but not with size at birth. Conclusions: Prenatal exposure to long-chain PFCAs may interfere with fetal and childhood growth in girls, and childhood growth in boys. Citation: Wang Y, Adgent M, Su PH, Chen HY, Chen PC, Hsiung CA, Wang SL. 2016. Prenatal exposure to perfluorocarboxylic acids (PFCAs) and fetal and postnatal growth in the Taiwan Maternal and Infant Cohort Study. Environ Health Perspect 124:1794–1800; http://dx.doi.org/10.1289/ehp.1509998

RASopathies are developmental diseases caused by mutations in rat sarcoma-mitogen-activated protein kinase pathway genes. These disorders, such as Noonan syndrome (NS) and NS-related disorders (NSRD), including cardio-facio-cutaneous (CFC) syndrome, Costello syndrome (CS), and NS with multiple lentigines (NSML; also known as LEOPARD syndrome), have a similar systemic phenotype. A wide spectrum of congenital heart disease and hypertrophic cardiomyopathy (HCMP) can exhibit major associated characteristics. A retrospective study was conducted at the Mackay Memorial Hospital, National Taiwan University Hospital, Buddhist Tzu-Chi General Hospital, Chang-Gung Memorial Hospital, Taichung Veterans General Hospital, and Chung Shan Medical University Hospital from January 2007 to December 2018. We reviewed the clinical records of 76 patients with a confirmed molecular diagnosis of RASopathies, including NS, CS, CFC syndrome, and NSML. We evaluated the demographic data and medical records with clinical phenotypes of cardiac structural anomalies using cross-sectional and color Doppler echocardiography, electrocardiographic findings, and follow-up data. A total of 47 (61.8%) patients had cardiac abnormalities. The prevalence of cardiac lesions according to each syndrome was 62.7, 50.0, 60.0, and 66.7% in patients with NS, CFC syndrome, CS, and NSML, respectively. An atrial septal defect was usually combined with other cardiac abnormalities, such as pulmonary stenosis (PS), HCMP, ventricular septal defect, or patent ductus arteriosus. Patients with NS most commonly showed PS. In patients with NSRD and cardiac abnormalities, HCMP (29.4%) was the most commonly observed cardiac lesion. PTPN11 was also the most frequently detected mutation in patients with NS and NSRD. Cardiac abnormalities were the most common symptoms observed in patients with RASopathies at the time of their first hospital visit. Performing precise analyses of genotype-cardiac phenotype correlations in a larger cohort will help us accurately diagnose RASopathy as soon as possible.

Objectives Symptoms of post-traumatic distress in mothers of preterm infants have been a subject of mental health research. The aim of this study was to assess the prevalence of and risk factors associated with such symptoms in mothers of preterm infants in Taiwan. Methods This was a cross-sectional study performed between January 1, 2010 and June 30, 2011. One hundred and two mothers of preterm infants born at less than 37 weeks gestation and with a subsequent neonatal intensive care unit (NICU) stay between 2005 and 2009 were recruited. Participants completed a demographic questionnaire, the Impact of Event Scale-Revised (IES-R), the Center for Epidemiologic Studies Depression Scale (CES-D) and the neuroticism subscale of the Maudsley Personality Inventory (MPI). The preterm infants' data were taken from medical records. Results The prevalence of symptoms of distress was 25.5% (26/102) in the participants. These symptoms were associated with previous miscarriages, preterm premature rupture of membranes, neurotic personality and depression. Conclusions The experience of preterm birth and NICU hospitalization can be traumatic to mothers. Early support for mothers during the preterm infants' NICU stay and transition to home care are recommended.

To investigate whether the efficacy of the lumbar-peritoneal (LP) shunt is sustainable, we measured the outcomes of patients with idiopathic NPH (iNPH) preoperatively and postoperatively.We retrospective reviewed records of 58 patients with iNPH from 2013 to 2015. Exclusion of 7 patients expired, 1 patient shunt infection, and 8 patients was loss of follow-up. In the remaining 42 patients, the mood, talking response, movement, attention, recalling memory, and mini-mental state examination (MMSE), representing patient outcomes, were measured. All of whom were follow-up for 3 years.Mood (1.91 ± 0.30), talking response (1.98 ± 0.15), movement (1.71 ± 0.51), attention (1.95 ± 0.22), and recalling memory (1.86 ± 0.35) were significantly improved after surgery (1 week;p 0.0001). However, the indicators significantly declined after 3 years (mood: 0.31 ± 0.52, talking response: 0.50 ± 0.59, movement: 0.17 ± 0.38, attention: 0.40 ± 0.59, recalling memory: 0.21 ± 0.42). The MMSE was also significantly improved after 3 months of surgery (17.9 5 ± 2.80 vs. 25.02 ± 3.36; p 0.0001). However, it declined after 3 years (17.83 ± 3.66; p = 0.83).The iNPH is considered potentially reversible. Our data supported that the LP shunt was efficient in the short term. However, the neurological degeneration was still progressive.

Temperamental tendencies may form the basis of personality development, and specific personality constellations are associated with increased incidences of behavioural problems. Phthalic acid ester (PAE) has been associated with symptoms of attention deficit hyperactivity disorder (ADHD) in cross-sectional studies. We hypothesised that early-life exposure to PAE affects the temperaments of children, particularly ADHD traits. In this study, we analysed the temperament evaluations completed at least once by maternal–infant pairs (n = 208) when the child was aged 2, 5, and/or 11 years between 2000 and 2012. We measured seven PAE metabolites in the urine of the mothers during pregnancy and their children using liquid chromatography-electrospray ionisation-tandem mass spectrometry. These metabolites included mono-methyl phthalate, mono-ethyl phthalate, mono-butyl phthalate (MBP), mono-benzyl phthalate (MBzP), and three metabolites of di (2-ethylhexyl) phthalate. The phthalate metabolite levels in pregnant women were significantly associated with a decreased threshold of responsiveness (coefficients from −0.21 to −0.46) and increased distractibility (coefficients from 0.23 to 0.46) in pre-school children. After adjustment for maternal exposure, the phthalate metabolite concentrations of the children exhibited significantly increased odds ratios (ORs) with respect to the ADHD symptom traits. Specifically, mono-2-ethyl-5-hydroxyhexyl phthalate (MEHHP), the sum of the DEHP metabolites, and MBzP yielded ORs and 95% confidence intervals of 2.98 (1.05–8.48), 3.28 (1.15–9.35), and 9.12 (1.07–78.06), respectively, for every log10 creatinine unit (g/g creatinine) increase. Thus, early-life phthalate exposure was found to be associated with the behavioural characteristics of children, particularly temperamental traits associated with ADHD.

The objective of this study was to examine the effects of in utero exposure to polychlorinated biphenyls (PCBs) and dioxins (polychlorinated dibenzo-p-dioxins, dibenzofurans (PCDD/F) on thyroid and growth hormone concentrations and growth in 8-year-old children. A total of 56 children (23 boys, 33 girls) were included in the study. All were stratified into high and low PCDD/F + PCB exposure groups based on maternal median indicator PCB and PCDD/F + PCB concentrations during pregnancy. Height, weight, body mass index, and thyroid and growth hormone concentrations were assessed and compared among the different exposure groups. There were no significant effects of indicator PCB or PCDD/F + PCB exposure levels on growth (height, weight, and bone age) among 8-year-old boys or girls. Boys exposed to high PCDD/F + PCB levels had significantly higher thyroxine-binding globulin (TBG) concentrations than boys exposed to low levels (P = 0.027). Girls exposed to high PCB levels had significantly lower IGF-binding protein-3 (IGFBP-3) concentrations than girls exposed to low levels (P = 0.038). Low levels of in utero exposure to PCDD/F+PCB and high indicator PCB levels were significantly associated with reduced serum concentrations of IGFBP-3. High levels of in utero exposure to PCDD/F+PCB plus either high or low indicator PCB levels were significantly associated with increased serum concentrations of growth hormone, T3, T4, and TBG. These findings suggest that the level of in utero exposure to PCBs and dioxins may affect serum concentrations of growth hormone, thyroid hormones, TBG, and IGFBP-3 in 8-year-old children.

OBJECTIVE Neonates are exposed to high levels of di(2ethylhexyl) phthalate through numerous medical procedures in the neonatal intensive care unit. Our aim was to assess the contribution of specific medical devices to the di(2-ethylhexyl) phthalate exposure of neonates. DESIGN Prospective. SETTING University hospital. PATIENTS We recruited 32 premature neonates, 20 with very low birth weight (

Introduction: Phthalate diesters are well-known environmental endocrine disruptors. However, few studies have examined their effects on children’s sex hormones using a birth cohort follow-up approa...

Background Phthalate diesters are commonly used and have been well established as environmental endocrine disruptors. However, few studies have examined their effects on sex steroid hormones in children. We followed children over time to examine the association between pre- and post-natal phthalate exposure and sex steroid hormone levels at 2, 5, 8, and 11 years of age. Methods We recruited 430 pregnant women from central Taiwan from 2000 to 2001 and assessed their children at birth, 2, 5, 8, and 11 years of age. We studies children with at least one measurement for both phthalate and hormone levels during each any of the follow-up time point (n = 193). Estradiol, free testosterone, testosterone, and progesterone were measured from venous blood. Three monoesters of di-2-ethylhexyl phthalate (DEHP), mono-benzyl phthalate, mono-n-butyl phthalate, mono-ethyl phthalate, and mono-methyl phthalate were measured in maternal urine collected during the 3rd trimester and child urine collected at each follow-up point. The sum of mono-2-ethylhexyl phthalate (∑MEHP) was calculated by summing the concentrations of the three DEHP monoesters. Generalized estimating equation regression analysis with repeated measures was used to estimate associations between phthalate metabolites and hormone levels. Results After adjustment for potential confounders, maternal ∑MEHP level was associated with decreased levels of progesterone in girls (β = −0.309 p = 0.001). The child ∑MEHP concentration was associated with decreased levels of progesterone for girls (β = −0.194, p = 0.003) and with decreased levels of free testosterone for boys (β = −0.124, p = 0.004). Conclusions Early-life DEHP exposure may alter sex steroid hormones of children over time, which may pose potential reproductive health risks., Highlights • Prenatal phthalate exposure was associated with decreased PG levels in girls. • Postnatal DEHP exposure was related to decreased free TT in boys and PG in girls. • Use of phthalate-containing products in developing children should be limited.

Purpose: The goal of this study was to gain a better understanding of the status of advanced maternal age among criteria for provision of amniocentesis in pregnant women in Taiwan. Materials and method: Data of 315 670 second-trimester amniocenteses from 28 national certified cytogenetics laboratories were retrospectively analyzed from the Prenatal Genetic Diagnosis Declaring and Database System of the Health Promotion Administration, Ministry of Health and Welfare in Taiwan between 2006 and 2013. Results: The number of pregnant women undergoing amniocentesis in Taiwan between 2006 and 2013 increased, and the most common three indications for amniocentesis were advance maternal age (75.11%), abnormal second trimester maternal serum screening (13.22%) and abnormal sonographic finding (8.00%). Down syndrome was the most common autosomal abnormality identified (25.74%); Turner syndrome was the most common sex chromosome abnormality (7.04%). Of structural rearrangements, 26.93% were balanced translocations and 17.10% were unbalanced translocations. The greatest proportion of fetal chromosomal abnormalities was found in cases where parents were also affected (38.02%). Conclusions: Clinical workers should provide detailed genetic diagnostic information to pregnant women, especially those with the common amniocentesis indications, which will enable them to determine a birth plan.

Background: Lead (Pb) exposure is associated with children's neurodevelopment, even at low doses. Leaded gasoline was banned in Taiwan in 2000 to reduce environmental exposure to Pb. Objectives: To evaluate the neurodevelopmental effect of low-level Pb exposure in young children. Methods: In 2001–2002, we have recruited 430 pregnant women in the third-trimester in Taichung, Taiwan who answered detailed questionnaires in the obstetric clinic. A total of 119, 76, and 66 children were followed up at 2–3, 5–6 and 8–9 years, respectively. We collected blood samples from pregnant women, Umbilical cord and children, and evaluated children's neurodevelopment and cognition function at all three time points using Bayley and Wechsler tests. Blood samples were analyzed for whole blood lead (BPb) levels. Results: Geometric mean of BPb in pregnant women, cord blood and children at 2–3, 5–6 and 8–9 years old were 2.21, 1.30, 2.48, 2.49 and 1.97 μg/dl, respectively. Low-level postnatal Ln BPb was significantly associated with not only decreasing intelligence quotient (IQ), but also delayed cognitive function in children at 5–8 years (β: −5.97, SE: 2.59, p=0.025), after adjustment for maternal education, maternal BPb exposure, Home Observation for Measurement of the Environment Inventory (HOME), and gender of child, using linear mixed models. No significant relation was observed between prenatal and cord blood Pb levels and children's cognitive function in children 2–8 years. Conclusions: Low-level postnatal BPb levels in children at 2–5 years may have lagged effects on neurodevelopment in those at 5 to 8 years. Action is warranted to reduce even very low environmental Pb levels to reduce the developmental burden of Pb on children. Keywords: Children health, Blood lead, Intelligence quotient (IQ), Prenatal exposure, Postnatal exposure, Gasoline

ObjectiveThere has been very limited research on the clinical features of newborns exposed to combined use of heroin, methadone, and amphetamine in the uterus. We describe a technique for the quantification of drug metabolites in neonatal hair samples.MethodsIn a tertiary neonatal care center in Taiwan, three neonates whose mothers self-reported heroin abuse with methadone treatment during pregnancy were studied. Involuntary exposure to amphetamine was not suspected before the births. To assess long-term illicit drug exposure during pregnancy, a quantifying technique of gas chromatography/mass spectrometry (GC/MS) for hair samples from neonates was developed to replace current methods for urine and blood specimens.ResultsAll three mothers were addicted to heroin and prescribed oral methadone treatment during pregnancy. Two males and one female were born and then admitted to the neonatal intensive care unit because of apparent neonatal abstinence syndrome (NAS) after birth. Additional hypertonicity and cerebral dysfunction were also diagnosed by electroencephalography in one case. Supportive care was given to the neonates, unless special treatments were needed in responding to tachypnea, fetal distress, or withdrawal symptoms. During follow-up periods from 10 months to 15 months, the signs of NAS remained and delays in milestones of development were observed. Further follow-up on the infants’ neurobehavioral development is necessary. Measurement results of neonates’ hair samples revealed high levels of metabolites of heroin, methadone, and amphetamine, reflecting the amount of illicit drug exposure 2–3 months before delivery.ConclusionThe current study suggested the possibility of polydrug exposure, which was previously unknown in pregnant women in Taiwan. Measurement of neonatal hair samples could provide a basis for clinical evaluation and potential corresponding treatment.

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare variant of Müllerian duct anomalies consisting of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Patients with HWW syndrome are usually asymptomatic until menarche, when they present with acute lower abdominal pain. Here we report a case of a female newborn with right renal agenesis diagnosed during the pregnancy. The patient presented with a protruding mass over the vaginal introitus that was associated with an obstructed hemivagina and uterine didelphys.

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 with an interstitial deletion of the short arm of chromosome 4 [46, XX, del(4)(p12p15.2)].

Sotos syndrome is an overgrowth syndrome characterized by distinctive facial features, developmental delay, and macrocephaly. Here, we present a 10-year-old girl with prenatal and postnatal overgrowth, prominent forehead, pointed chin, and advanced bone age. She also has a persistent falcine sinus in the posterior falx cerebri, patent ductus arteriosus, unilateral renal agenesis, and scoliosis. A pituitary macroadenoma was also found with external compression of the inferior aspect of the optic chiasm. We identified a de novo missense mutation of the NSD1 (nuclear receptor-binding SET domain protein 1) gene in this patient. Computational three-dimensional structural analysis revealed that the NSD1 mutation induced major alterations.

Background The drug ketamine is frequently abused for recreational use in Asia, but few studies in humans have focused on the effects of ketamine exposure during pregnancy on the health of neonates. Here, we report a neonate whose mother was suspected of ketamine abuse during pregnancy. The case was confirmed by testing hair samples of the neonate. Methods Hair samples of the neonate were taken on the first day of referral. Levels of common drugs of abuse in Asia were measured in the hair sample by gas chromatography-mass spectrometry using our previously reported method with modifications. This method was developed and validated to simultaneously quantify levels of amphetamine, ketamine and opiate in human hair. Results The neonate was a female baby, born full term, with a low birth weight of 2250 g. Very high levels of ketamine were detected in the neonate's hair, even though the mother stated that she had stopped abusing ketamine during the early stage of pregnancy. The neonate suffered from general hypotonia; moderate cerebral dysfunction was found by electroencephalography. Fortunately, her hypotonia improved gradually within 21 days. Conclusion This is the first report of ketamine exposure during late pregnancy detected by hair testing. We noted several clinical features in this case, including the infant being small for gestational age, intrauterine growth retardation, remarkable hypo-tonia, and poor reflex responses. Although the mother denied the use of ketamine during the late stage of her pregnancy, significant amount of ketamine and norketamine was still found in hair samples (only 2 cm long and 25 mg) from the infant.

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 found in trisomy 18. Dandy-Walker syndrome is a brain malformation that has been reported in association with numerous chromosomal abnormalities, although it has rarely been reported in association with trisomy 18. Here, we present a case of trisomy 18 with ocular pathology and variant of Dandy-Walker syndrome, a combination that has not previously been reported.

Cerebro-costo-mandibular syndrome (CCMS) is an uncommon multiple congenital anomaly syndrome characterized by severe micrognathia, posterior rib-gap defects, and developmental delay. The cause of CCMS is unknown. Genes hypothesized to have a causal role in CCMS, include myogenic factor 5 (MYF5), goosecoid homeobox (GSC) and runt-related transcription factor 2 (RUNX2) [formerly known as core-binding factor (CBFA1)]. We report an infant with typical features of CCMS who, on prenatal ultrasound, was found to have severe micrognathia. We present the first image by three-dimensional computed tomography of posterior rib-defect, and we exclude mutations of the MYF5, GSC, RUNX2, and TCOF1 genes in our patient. Further molecular studies are needed to evaluate the cause of CCMS.

Cerebro-costo-mandibular syndrome (CCMS) consists of severe micrognathia, glossoptosis, posterior rib-gap defects and developmental delay. It may cause upper airway obstruction and flail chest, resulting in neonatal hypoxia, and possibly death. Early airway management or surgical intervention to maintain a patent airway is critical to avoid hypoxia in CCMS patients. We report a newborn with CCMS who was successfully weaned from a laryngeal mask after undergoing a tongue–lip adhesion operation at 164 days of age.

Summary Objective To present the prenatal magnetic resonance imaging (MRI) and ultrasound findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with chromosome 17p13.3 deletion in a fetus. Case Report A 30-year-old, primigravid woman was referred to the hospital at 31 weeks' gestation because of intrauterine growth restriction (IUGR) and polyhydramnios detected by ultrasound. The pregnancy was uneventful until 31 weeks of gestation when IUGR and polyhydramnios were first noted. Level II ultrasound at 31 weeks' gestation showed fetal biometry equivalent to 27 weeks' gestation, an amniotic fluid index of 33.4 cm, ventriculomegaly, and abnormal sulcal development with absence of gyri and sulci, and a shallow Sylvian fissure. Other organs were unremarkable. Subsequent amniocentesis revealed a 46,XY,del(17)(p13.3) karyotype. Ultrafast fetal MRI performed at 34 weeks of gestation revealed agyria/pachygyria, a figure-eight appearance of the brain, a wide and shallow Sylvian fissure, enlarged subarachnoid space, ventriculomegaly, and polyhydramnios. At 35 weeks' gestation, a 1,346-g male baby was delivered with facial dysmorphism, characteristic of MDLS. Postnatal MRI confirmed the prenatal diagnosis. Conclusion Polyhydramnios, IUGR and ventriculomegaly are important prenatal ultrasound markers of MDLS. Prenatal diagnosis of these markers should include a detailed investigation of cerebral sulci and fissures, and genetic analysis for MDLS. Fetal MRI is helpful for the diagnosis of lissencephaly.

We report the case of a female infant with Pfeiffer-like syndrome and holoprosencephaly. She had a cloverleaf skull, ocular proptosis, broad thumbs and halluces, and variable accompanying anomalies compatible with Pfeiffer syndrome. She also displayed microcephaly, short palpebral fissures, and a smooth philtrum, which are clinical signs consistent with fetal alcohol syndrome. She suffered from multiple congenital anomalies and died at 41 days of age. Cardio-pulmonary failure, brain abnormalities, prematurity, and multiple complications contributed to her death. The patient displayed normal chromosomal numbers and type. DNA analysis did not reveal fibroblast growth factor receptor (FGFR) genes FGFR1, FGFR2, FGFR3 or TWIST gene mutations. We review the previous reports of Pfeiffer syndrome and holoprosencephaly and describe our infant patient with Pfeiffer-like syndrome, holoprosencephaly, and heavy in utero maternal alcohol and smoking exposures.

Vacuum-assisted deliveries are fairly commonly used in obstetrical practice. Most newborns who have a vacuum-assisted delivery undergo extracranial birth traumas that have no residual consequences. Vacuum-assisted deliveries that complicate intracranial vascular infarction are rarely reported. We present 2 cases of intracranial vessel infarction after vacuum-assisted deliveries. One newborn, with scalp erosion, showed an unusual left middle cerebral artery infarct, and the other, with a severe subgaleal hematoma, had a venous thrombosis. Before the diagnosis, made using brain ultrasonography, neither had specific observable neurological symptoms. In conclusion, vacuum-assisted deliveries should be given special attention, especially when they are combined with a severe extracranial birth trauma.

Benign familial neonatal convulsions are a rare, autosomal-dominant form of neonatal epileptic syndrome. It can occur 1 week after birth, and usually involves frequent episodes, but with a benign course. The diagnosis depends on family history and clinical features. The mutant gene locates at 20q13, a voltage-gated potassium-channel gene (KCNQ2). Our patient exhibited an uneventful delivery course and onset of seizures at age 2 days. The general tonic seizures were unique and asymmetric, with frequencies of >20 per day. Results of examinations were within normal limits, including biochemistry and brain magnetic resonance imaging. Abnormalities included a small ventricular septum defect on cardiac sonography unrelated to the seizures, and nonspecific, multiple, high-voltage sharp waves and spike waves occurring infrequently in the central region on electroencephalogram. After phenobarbital and phenytoin use, the seizures persisted. On day 12, another antiepileptic drug, vigabatrin (unavailable in the United States), was used, and seizures decreased. A novel mutation of KCNQ2 was identified from a blood sample. The baby had occasional seizures with drug treatment at age 3 months. Benign familial neonatal convulsion should be considered in a baby with a unique seizure pattern and positive family history. Genetic counseling and diagnosis are mandatory.

The pentalogy of Cantrell was first described in 1958 by Cantrell and coworkers, who reported five cases in which they described a pentad of findings including a midline supraumbilical thoracoabdominal wall defect, a defect of the lower sternum, abnormalities of the diaphragmatic pericardium and the anterior diaphragm, and congenital cardiac anomalies. Trisomy 18 has an incidence of about 0.3 per 1000 newborns. We present a case of trisomy 18 with incomplete Cantrell syndrome. The patient presented with hypogenesis of the corpus callosum, vermian-cerebellar hypoplasia (Dandy-Walker variant), ventricular septal defect, dextrocardia, patent ductus arteriosus, a defect of the lower sternum, a midline supraumbilical abdominal wall defect with omphalocele, congenital left posterior diaphragmatic hernia (Bochdalek hernia), micrognathia, low-set and malformed ears, rocker-bottom feet, dorsiflexed hallux, hypoplastic nails, short neck, and wrist deformity. Trisomy 18 syndrome was unusually combined with the pentalogy of Cantrell. We present this case because of its rarity and high risk of mortality.

Hydranencephaly is a rare and fatal central nervous system disorder where all or nearly all of the bilateral cerebral hemispheres are absent. The extensive hollow cerebrum is replaced with cerebrospinal fluid. Clinically, the differential diagnoses of hydranencephaly include severe hydrocephalus and alobar holoprosencephaly. Nearly all cases are sporadic, involving approximately 1 in 5000 continuing pregnancies. The exact main cause is still unknown, but hydranencephaly is usually found to develop secondarily to the occlusion of cerebral arteries above the supraclinoid level. We present the case of a 1-month-old male infant with hydranencephaly initially thought to be severely hydrocephalus via routine antenatal intrauterine sonography performed at 35 weeks of gestation. Hydranencephaly was confirmed by brain sonography, brain magnetic resonance imaging and magnetic resonance angiography postnatally. We discuss several imaging features that are helpful in distinguishing hydranencephaly from extreme hydrocephaly. Different theories that have been recently proposed regarding the origin of hydranencephaly are reviewed.

Background: Epidemiological studies concerning the relations of exposure to phthalates, thyroid function and cognitive function among children could be limited. Objectives: We conducted the longitu...

Background Perfluoroalkyl substances (PFASs) are a group of fluorinated organic substances that are widely used in consumer products and are often detectable in human tissues. Human studies on prenatal exposure to PFASs and neurodevelopment in children are few and inconsistent. Methods In the Taiwan Maternal and Infant Cohort Study, we collected serum samples from pregnant women during the third trimester and measured concentrations of 9 PFASs using a high performance liquid chromatography system. A subsample of their children was assessed with full scale intelligence quotient (FSIQ), verbal IQ (VIQ) and performance IQ (PIQ) at both age 5 (n = 120) and 8 years (n = 120). We used multivariate linear regression models to examine prenatal PFAS exposure in relation to IQ scores at each age period. Results Prenatal perfluoroundecanoic acid (PFUnDA) concentrations were inversely associated with children's PIQ scores at age 5 years, with an adjusted coefficient (β) of −1.6 (95% confidence interval [CI]: (−3.0, −0.2). When children reached 8 years, most of the prenatal PFASs showed inverse association with children's FSIQ, VIQ and PIQ scores. Among them, prenatal perfluorononanoic acid (PFNA) reached significance. Children with higher prenatal PFNA levels had lower VIQ with an adjusted β of −2.1 (95% CI: −3.9, −0.2). Conclusions We found two prenatal PFAS exposure, both long-chain PFASs, in association with decreased IQ test scores in children. Our findings suggest more studies on long-chain PFASs and children's neurodevelopment.

Previous studies have shown that phthalate exposure in childhood is associated with the development of respiratory problems. However, few studies have assessed the relative impact of prenatal and postnatal exposure to phthalates on the development of asthma later in childhood. Therefore, we assessed the impact of prenatal and postnatal phthalate exposure on the development of asthma and wheezing using a Taiwanese birth cohort. A total of 430 pregnant women were recruited, and 171 (39.8%) of them had their children followed when they were aged 2, 5, and 8 years. The International Study of Asthma and Allergies in Childhood questionnaire was used to assess asthma and wheezing symptoms and serum total immunoglobulin E levels were measured at 8 years of age. Urine samples were obtained from 136 women during their third trimester of pregnancy, 99 children at 2 years of age, and 110 children at 5 years. Four common phthalate monoester metabolites in maternal and children’s urine were measured using liquid chromatography-electrospray ionization-tandem mass spectrometry. Maternal urinary mono-benzyl phthalate [MBzP] concentrations were associated with an increased occurrence of wheezing in boys at 8 years of age (odds ratio [OR] = 4.95 (95% CI 1.08–22.63)), for upper quintile compared to the others) after controlling for parental allergies and family members' smoking status. Urinary mono-2-ethylhexyl phthalate [MEHP] levels over the quintile at 2-year-old were associated with increased asthma occurrence (adjusted OR = 6.14 (1.17–32.13)) in boys. Similarly, the sum of di-2-ethyl-hexyl phthalate [DEHP] metabolites at 5 years was associated with asthma in boys (adjusted OR = 4.36 (1.01–18.86)). Urinary MEHP in maternal and 5-year-old children urine were significantly associated with increased IgE in allergic children at 8 years. Prenatal and postnatal exposure to phthalate was associated with the occurrence of asthma in children, particularly for boys.

We describe an 11-year-old boy with facial dysmorphism consisting of a round and flat face, hypertelorism, short nose, and down turned corners of the mouth. In addition, he had severe mental retardation, short stature, imperforate anus, and basilar artery dolichoectasia. Cytogenetic evaluation revealed an unbalanced paternally inherited translocation t(18;20)(p11.2q13.3), resulting in partial monosomy 18p and partial trisomy 20q. The combination of deletion 18pduplication 20q has not been previously described and we suggest that the unusual finding of basilar artery dolichoectasia may be a feature of one of the imbalances.

We describe two siblings with generalized hypotonia, expressive language delay, developmental delay, mild facial dysmorphism, and accelerated growth. In addition, the male sibling had testis dysgenesis. Cytogenetic evaluation revealed an unbalanced maternally inherited translocation t(15;22)(q26;q13.3) resulting in partial monosomy 22q and trisomy 15q. The combination of deletion 22q and duplication 15q has not been described previously.

In Taiwan, the prevalence of obesity in children is increased 1.5 folds in the last decade. Exposure to endocrine disruptor, such as phthalates, could affect endocrine system and adipokine secretio...

Phthalate acid esters (PAEs) are widely used as plasticizers in many daily used products. Although some evidence of its reproductive effects has been shown, however; pubertal development effects fr...

Background: Few studies have examined the association between environmental phthalate exposure and children’s neurocognitive development, especially in birth cohort follow-up studies. Objectives: W...

In utero exposure to phthalates may adversely affect reproductive development in children due to the anti-androgenic properties of the pthalates. Accordingly, we aimed to determine the effects of in utero and environmental phthalate exposure on the reproductive development of eight-year-old children. We recruited 180 children in central Taiwan during November 2001 and followed them until August 2009 when all children became eight years old. Birth outcomes were collected. Bone age, hormone concentrations, and reproductive developmental stages were determined. Phthalate metabolite levels, including mono-2-ethylhexyl phthalate [MEHP], mono-n-butyl phthalate [MnBP], and mono-benzyl phthalate [MBzP], were assessed. No significant gender differences were found in in utero phthalate exposure. Maternal urinary levels of phthalate metabolites did not correlate significantly with birth outcomes, physical characteristics, and reproductive hormones of the eight-year-old children. Regarding the urinary phthalate metabolite levels of the eight-year-old children, MEHP correlated significantly with serum progesterone levels. MEHP levels in girls correlated significantly with serum progesterone levels. MnBP correlated significantly with serum FSH in all children. In girls, MnBP correlated with serum FSH, and MBzP correlated with serum progesterone and FSH levels. Urinary phthalate metabolite levels did not correlate with female developmental stages or the development of female reproductive organs. Phthalate metabolites did not correlate with the physical characteristics and reproductive hormones in boys. Therefore, environmental exposure to phthalates, as determined by urinary phthalate metabolite levels of eight-year-old children, may affect reproductive hormone levels in children, indicating that further studies on the environmental health effects of phthalates are warranted.