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Author: Jia-Woei Hou (67)



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Mar
2018

The contamination of a clouding agent with di(2-ethylhexyl) phthalate (DEHP), a substitute emulsifier-containing compound used in a variety of foods was announced on May 23, 2011. The aims of this study were as follows (1) compare the urine phthalates (PAE) metabolites concentration and estimate the daily intake (DI) of PAEs in pregnant women before and after the tainted food scandal and (2) examine the effect of relatively high PAEs exposure on birth outcome. One-hundred twelve pregnant women in Northern Taiwan participated in this study from March to December 2010, i.

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Dec
2017

Prenatal exposure to phenols, phthalates (PAEs), and organophosphate (OP) pesticides may increase the risk of abnormal birth outcomes. However, many previous studies have examined exposure to a limited number of chemical classes or exposure profiles limited to a specific stage of pregnancy. This study aims to characterize the concurrent exposure scenario throughout pregnancy by simultaneously monitoring internal doses of several endocrine-disrupting compounds (EDCs), including 2 phenols (nonylphenol (NP) and bisphenol A (BPA)), 9 PAEs, and 6 OP pesticide metabolites and to assess the relationships between concurrent exposure to EDCs and infant birth weight, length, and head and chest circumference.

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May
2017

Medulloblastoma (MB) is the most common pediatric malignant brain tumor and patients with high-risk or recurrent MB respond poorly to current therapies, and have a higher related mortality. For this reason, potential molecules related to MB need be identified in order to develop targets for the development of novel therapeutics. In the present study, we compared MB microarray data obtained using different microarray systems and significant targets were selected by gene annotation and enrichment analysis.

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Dec
1969

On May 23, 2011, a major scandal involving the illegal use of phthalates as clouding agents in food products was reported. Specifically, di(2-ethylhexyl) phthalate (DEHP) was purposefully added to foods as a substitute emulsifier. The purpose of this study was to examine the effects of DEHP exposure on the growth characteristics of the child victims of this scandal.

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Oct
2015

Some phthalic acid esters (PAEs) and nonylphenol (NP) are endocrine-disrupting chemicals (EDCs) that are widely used in consumer products. Consequently, the general population is exposed simultaneously to both groups of chemicals.
To investigate the single- and co-exposure effects of PAEs (DMP, DEP, DnBP, DiBP, BBzP, and DEHP) and NP on obesity and pubertal maturity to compare the body sizes of general adolescents with the complainants of the phthalate-tainted foods scandal that occurred in Taiwan.

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Dec
1969

Nonylphenol (NP) has been proven as an endocrine disrupter and had the ability to interfere with the endocrine system. Though the health effects of NP on pregnant women and their fetuses are sustained, these negative associations related to the mechanisms of regulation for estrogen during pregnancy need to be further clarified. The objective of this study is to explore the association between maternal NP and hormonal levels, such as estradiol, testosterone, luteinizing hormone (LH) and follicle stimulating hormone (FSH), and progesterone.

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Aug
2014

The immune system of newborn is generally depressed by impaired production of Th1-cell associated cytokines, which results in increased susceptibility to intracellular pathogens and poor response to vaccinations. For avoiding abortion, the maternal and fetal immune systems tend to Th2-cell polarizing cytokines. Besides, IL-12p35 is a determining factor of the bioactivity of IL-12, which has an important role in the Th1 response.

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Oct
2016

Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy.

Pediatr Neonatol 2016 Oct 30;57(5):431-435. Epub 2014 Jan 30.
Jia-Woei Hou
Maple syrup urine disease (MSUD) is an autosomal recessive aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids (BCAAs: leucine, isoleucine, and valine). Accumulation of their corresponding keto-acids leads to encephalopathy if not treated in time. A newborn male patient was suspected to have MSUD after tandem mass study when he presented symptoms and signs suggestive neonatal sepsis, anemia, and diarrhea.

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Jun
2014

Maple syrup urine disease (MSUD) is a rare inborn error of metabolism caused by a deficiency of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. Mutations in any one of the three different genes encoding for the BCKD components, namely, BCKDHA, BCKDHB, and DBT, may be responsible for this disease. In Taiwan, few MSUD cases were diagnosed clinically, and most of these patients are from Aboriginal tribes.

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Dec
2013

Conradi-Hünermann-Happle syndrome with cervical stenosis.

Pediatr Neurol 2013 Dec 21;49(6):513-4. Epub 2013 Sep 21.
Jia-Woei Hou

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Jun
2013

Restrictive dermopathy (RD) is a rare and lethal autosomal recessive syndrome characterized by very tight, thin, and easily eroded skin and contracture of joints. We present two siblings in a family. Case 1, a female neonate, showed mild characteristic presentations of RD and survived for 16 days, and Case 2, a male neonate, was stillborn with typical severe features of RD.

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Jul
2011

Kabuki syndrome is a rare, multiple malformation disorder characterized by a distinctive facial appearance, cardiac anomalies, skeletal abnormalities, and mild to moderate intellectual disability. Simplex cases make up the vast majority of the reported cases with Kabuki syndrome, but parent-to-child transmission in more than a half-dozen instances indicates that it is an autosomal dominant disorder. We recently reported that Kabuki syndrome is caused by mutations in MLL2, a gene that encodes a Trithorax-group histone methyltransferase, a protein important in the epigenetic control of active chromatin states.

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Jul
2011

To report clinical experiences and cytogenetic findings of transient myeloproliferative disorder (TMD) in neonates with and without Down syndrome (DS).
GATA1 gene was screened in DNA samples from neonates presenting with TMD during their leukemic and remission status.
Six neonates (2 phenotypically normal and 4 DS) born in the past 6 years had presented with TMD; all had trisomy 21 during leukemic status.

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Jul
2011

A majority of the children with Prader-Willi syndrome (PWS) have global developmental delay and mental delay. The aim of this study was to investigate the developmental profiles and mental assessments among preschool children with PWS.
Ten children with PWS between the ages of 15 months to 6 years, and 11 children with typical development were enrolled.

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Sep
2009

The oculocerebrorenal syndrome of Lowe, an X-linked multisystem disorder, was diagnosed in a male patient who presented with typical abnormalities of the eyes, kidneys and nervous system. Besides congenital cataracts, renal tubular dysfunction and psychomotor retardation, the patient had also suffered from profound failure to thrive, growth hormone deficiency, severe osteoporosis with hypophosphatemic rickets, and progressive renal dysfunction since early childhood, which were attributed to the metabolic derangements following Fanconi syndrome. Direct sequencing of the OCRL1 gene (responsible for the oculocerebrorenal syndrome of Lowe) revealed a de novo c.

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Jun
2009

Natural course of neonatal progeroid syndrome.

Pediatr Neonatol 2009 Jun;50(3):102-9
Jia-Woei Hou
Several progeroid disorders presenting a specific "old-man" appearance since birth or childhood have been described. Here, five patients with a history of severe intrauterine and postnatal growth retardation and pseudohydrocephaloid cranium noted after birth that were suggestive of neonatal progeroid syndrome (NPS) or Wiedemann-Rautenstrauch syndrome are reported. We discuss the natural course of the syndrome.

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May
2009

Nasopharyngeal carcinoma (NPC) is an endemic malignancy prevalent in South East Asia. Epidemiological studies have associated this disease closely with Epstein-Barr virus (EBV) infection. Previous studies also showed that EBV reactivation is implicated in the progression of NPC.

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May
2009

Restrictive dermopathy is a rare and lethal autosomal recessive genodermatosis characterized by tight skin, typical dysmorphic face, generalized arthrogryposis and pulmonary hypoplasia. Infants with restrictive dermopathy have similar findings in skin biopsy, but other abnormalities are unremarkable. We report a male preterm infant with restrictive dermopathy.

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Nov
2007

Van der Woude syndrome, characterized by lip pits and cleft lip/ palate, presents with variable expressions. This retrospective study was designed to obtain a better understanding of its clinical pattern in Taiwanese patients.
Of 13,147 cleft patients treated at the Chang Gung Craniofacial Center from 1976 to 2004, there were 64 with Van der Woude syndrome.

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Dec
1969

Only 4% of Down syndrome (DS) cases have a Robertsonian translocation (ROB). The aim of this study was to define the possible breakage area in 21p where ROB occurs. We prospectively and consecutively collected ten cases ROB DS from three medical centers.

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Aug
2007

Patau syndrome (trisomy 13) is very rare in live-born babies. Individuals with this chromosomal syndrome have a short lifespan and are rarely seen beyond infancy. This study is aimed at the clinical spectrum, natural history, and survival of patients with trisomy 13.

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Mar
2007

Congenital arhinia, complete absence of the nose, is an extremely rare anomaly with unknown cause. To our knowledge, a total of 36 cases have been reported, but there has been no molecular-genetic study on this anomaly. We encountered a sporadic case of congenital arhinia associated with a de novo chromosomal translocation, t(3;12)(q13.

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Jan
2007

Splenectomy followed by bone marrow transplantation (BMT) has been applied successfully in the treatment of neuronopathic Gaucher disease (GD). GD in combination with schizencephaly has not previously been reported. We describe a girl who presented with hemiparesis and oculomotor apraxia since infancy, and thereafter developed progressive anemia, thrombocytopenia, hepatosplenomegaly, psychomotor retardation, and skeletal abnormalities.

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Nov
2006

Deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) may cause various clinical entities such as Lesch-Nyhan syndrome (LNS). A 9.5-y-old boy with the phenotypic features of LNS, including hyperuricaemia, choreoathetosis, self-mutilation and profound neurological dysfunction, was found to have HPRT deficiency.

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Oct
2006

Cardiomyopathies may be idiopathic or secondary to an underlying definable systemic disorder, especially in a young population. A number of inherited metabolic disorders will lead to hypertrophic or dilated cardiomyopathy. Identifying the metabolic etiologies of cardiomyopathy is important for genetic counseling and identification of appropriate therapeutic interventions.

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Aug
2006

Allogeneic hematopoietic stem cell transplantation represents the only curative option for malignant infantile osteopetrosis (MIOP), a rare disease of infants and young children, characterized by excessive accumulation of mineralized bone and abnormal hematopoiesis. We report a case of successful engraftment and stable full-donor chimerism in a patient with MIOP who underwent unrelated donor cord blood transplantation (CBT). The donor was 2-loci human leukocyte antigen (HLA)-mismatch.

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Sep
2005

We present a male infant with multiple congenital anomalies including severe growth retardation, microcephaly, hypertelorism, low-set ears, bilateral cleft lip and palate, micrognathia, cryptorchidism with hypospadias, hemivertebrae, and complex heart defects. The karyotype was 46, XY, rec(22) dup(22q) inv(22)(p11q13)pat. The duplicated segment (q13.

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Sep
2005

Contiguous gene syndrome (CGS) is characterized by a series of clinical features resulting from interstitial or terminal deletions of various adjacent genes. Several important genes have been identified in the Xp22.3 region to be responsible for genetically heterogeneous diseases.

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Feb
2006

The Rubinstein-Taybi syndrome (RTS) is a rare but well-defined condition characterized by growth and mental retardation, broad thumb-hallux, and distinctive facial features. Ten unrelated Taiwanese children (6 boys and 4 girls) with clinical features suggestive of RTS were evaluated. The associated anomalies included cryptochidism (6/6 males), microcephaly (9/10), congenital heart diseases (8/10), pectus excavatum (5/10), low IGF-I level (4/10), strabismus/nystagmus (4/10), epilepsy (3/10), glaucoma (2/10), cleft palate (2/10), web neck (2/10), limb hypoplasia (2/10), sleep apnea (1/10), and vesico-ureteral reflux (1/10).

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Jul
2005

Generalized lipodystrophy (GLD) is characterized clinically by an almost complete lack of fat in adipose tissue. Traditionally, GLD can be divided into congenital and acquired types according to the clinical course and underlying etiologies. Here, we describe a boy with a probable diagnosis of acquired GLD.

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Jul
2005

Cholelithiasis and pseudocholelithiasis in childhood.

Acta Paediatr Taiwan 2004 Sep-Oct;45(5):264
Jia-Woei Hou

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Mar
2005

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two clinically distinct neurobehavioral syndromes that are caused by deficiency of gene expression from paternally or maternally derived homologues on chromosome 15q11-q13, respectively. Clinical and genetic heterogeneities are common in both syndromes and they are now regarded as 'sister genetic imprinting syndromes'. This study aimed to describe and compare the electroclinical characteristics of seizures between PWS and AS, and to try to explore the possible mechanisms of epileptogenesis in these two syndromes.

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Mar
2005

The Marshall-Smith syndrome (MSS) is rare congenital disorder, characterized by a triad of orofacial dysmorphism, failure to thrive, and accelerated osseous maturation. An 8-year-old boy with MSS associated with congenital glaucoma, corneal erosion, laryngomalacia, glossoptosis, choanal stenoses, bilateral peripheral hearing defect, ventriculomegaly, congenital heart disease (atrial septal defect), chronic pulmonary disease, and scoliosis was reported. A tracheostomy with endotracheal tube insertion was performed for his difficult airway.

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Sep
2004

Fetal warfarin syndrome.

Chang Gung Med J 2004 Sep;27(9):691-5
Jia-Woei Hou
Fetal warfarin syndrome (FWS) or warfarin (coumadin) embryopathy is a rare condition as a result of fetal exposure to maternal ingestion of warfarin during pregnancy. A male infant, whose mother was treated with the anticoagulant (warfarin) because of a mechanical heart valve replacement after rheumatic heart disease, presented with signs of warfarin embryopathy. The facial dysmorphism included hypoplasia of nasal bridge, laryngomalacia, pectus carinatum, congenital heart defects (atrial septal defect and patent ductus arteriosus), ventriculomegaly, stippled epiphyses, telebrachydactyly, and growth retardation.

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Sep
2004

A 2-year-old boy who was failing to thrive and who had multiple anomalies was found to have a maternally derived tandem duplication of the long arm of the X chromosome: dup(X)(q13.2-q21.2).

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Jul
2004

49, XXXXY syndrome.

Chang Gung Med J 2004 Jul;27(7):551-4
Jia-Woei Hou
49, XXXXY syndrome is a rare sex chromosomal disorder. A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical hernia, microphallus, and mild clenched hands. Chromosomal studies via techniques of G-banding and fluorescence in situ hybridization showed the constitution to be 47, XXXXY in all cells.

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Oct
2004

A female newborn suffering from congenital arhinia with complete airway obstruction is reported. In addition, she had hypertelorism, microphthalmia, high-arched palate, and hypoplasia of the auditory canal and mastoid and facial bones, along with the absence of olfactory bulbs and tracts. She had a de novo reciprocal translocation between chromosomes 3q13.

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May
2004

Ring chromosomes are rare chromosomal anomalies and usually not stable in nature. Patients carrying ring chromosome have various phenotypes depending on the degree of structural rearrangement. A 1-year-old boy, presenting with hypotonia, blepharophimosis, ptosis, a bulbous nose, mild psychomotor retardation, and epilepsy, was found to have mosaicism of chromosome ring 14 and monosomy 14.

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Aug
2004

Bardet-Biedl syndrome (BBS) and McKusick-Kaufman syndrome (MKKS) are rare congenital disorders of autosomal recessive inheritance. Because of the phenotypic overlap of both syndromes, including hydrometrocolpos (HMC) and postaxial polydactyly (PAP) in the neonatal stage, the potential for diagnostic confusion exists. A case of BBS with the initial presentation of MKKS is reported.

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Aug
2004

A female infant with hypotonia and cardiomegaly.

Acta Paediatr Taiwan 2004 Jan-Feb;45(1):1-3
Jia-Woei Hou

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Apr
2004

Kabuki make-up syndrome (KS), also called Niikawa-Kuroki syndrome, is a rare congenital disorder of unknown etiology. Most KS cases occur sporadically and familial KS had never been reported in Taiwan. I describe four individuals in one family with KS.

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