Thyroid and growth hormone concentrations in 8-year-old children exposed in utero to dioxins and polychlorinated biphenyls.

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.

Prenatal exposure to phthalate esters and behavioral syndromes in children at 8 years of age: Taiwan Maternal and Infant Cohort Study.

Background: Few studies have shown an association between prenatal phthalate exposure and adverse effects on neurodevelopment and behavior in young children.

Objectives: We aimed to assess the relationship between prenatal exposure to phthalate esters and behavior syndromes in children at 8 years of age.

Methods: A total of 122 mother-child pairs from the general population in central Taiwan were studied from 2000 to 2009.

Development of genetic counseling services in Taiwan.

Taiwan is an emerging industrial country in subtropical Asia with a population of 23 million. There were around 200,000 newborns in 2011. Delayed first marriage, low birth rate, and rapid aging are major demographic issues.

A polymorphism in the leptin receptor gene at position 223 is associated with growth hormone replacement therapy responsiveness in idiopathic short stature and growth hormone deficiency patients.

We hypothesized that responses to growth hormone (GH) therapy by idiopathic short stature (ISS) and growth hormone deficiency (GHD) patients were associated with single nucleotide polymorphisms (SNPs) in the leptin (LEP) and leptin receptor (LEPR) genes. We retrospectively enrolled ISS (n = 32) and GHD (n = 38) patients and forty healthy age-and gender-matched children. They were genotyped for the LEP promoter at nt.

Perceived knowledge and clinical comfort with genetics among Taiwanese nurses enrolled in a RN-to-BSN program.

Background: Advances in genetics have had a profound impact on health care. Yet, many nurses, as well as other health care providers, have limited genetic knowledge and feel uncomfortable integrating genetics into their practice. Very little is known about perceived genetic knowledge and clinical comfort among Taiwanese nurses enrolled in a Registered Nurse to Bachelor of Science in Nursing program.

A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain.

Mutations in the MID1 gene result in X-linked Opitz G/BBB syndrome (OS), a disorder that affects development of midline structures and comprises hypertelorism, cleft lip/palate, hypospadias, and laryngo-tracheo-esophageal abnormalities, and, at times, neurological, anal, and cardiac defects. MID1 gene abnormalities include missense, nonsense, and splicing mutations, small insertions, small deletions, and complex rearrangements. Here, we present a patient with Opitz G/BBB syndrome and a unique MID1 gene point mutation c.

Study of leptin levels and gene polymorphisms in patients with central precocious puberty.

Introduction: Three single-nucleotide polymorphisms (SNPs) in the leptin (LEP) or leptin receptor (LEPR) genes were assessed for their association with central precocious puberty (CPP).

Results: The control group with the A/G SNP at LEPR 223 or A/G SNP at LEPR 109 exhibited significantly higher peak luteinizing hormone (LH) levels. The leptin level in the CPP group was significantly higher than that in the control group, but SNPs in either LEP or LEPR gene could not explain this observation.

Study of the leptin levels and its gene polymorphisms in patients with idiopathic short stature and growth hormone deficiency.

Leptin levels may regulate fat metabolism, skeletal growth, and puberty. Leptin gene variants affect risk of obesity, cancer, but their effect on onset of growth hormone deficiency (GHD) and idiopathic short stature (ISS) is unknown. We tested the hypothesis that the phenotype of GHD and ISS may be associated with polymorphism in the leptin gene.

Herlyn-Werner-Wunderlich syndrome consisting of uterine didelphys, obstructed hemivagina and ipsilateral renal agenesis in a newborn.

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.

Siblings with deletion 22q13.3 and trisomy 15q26 inherited from a maternally balanced translocation.

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.

Interstitial deletions of the short arm of chromosome 4 in a patient with mental retardation and focal seizure.

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.

Taiwanese nursing students' perceived knowledge and clinical comfort with genetics.

Purpose: To examine perceived knowledge and clinical comfort with genetics among Taiwanese undergraduate nursing students. Information about the integration of genetics into the nursing curriculum was also assessed.

Design: A descriptive, cross-sectional study.

De novo interstitial deletion of chromosome 2 (p23p24).

Structural anomalies associated with partial 2p monosomy are rare. There has only been one case of interstitial deletion of 2p24.2-2p25.

Leptin expression and leptin receptor gene polymorphisms in growth hormone deficiency patients.

Growth hormone deficiency (GHD) patients have lower weight, height, bone age, insulin-like growth factor 1 (IGF-1) levels, GH levels, fat metabolism and skeletal growth. The association of leptin with GHD characteristics and the effect of gene variants of leptin on GHD are unknown. Our aim was to examine the association of circulating leptin levels and common genetic variants in leptin (LEP) and leptin receptor (LEPR) genes with anthropometric measures, circulating hormone concentrations and GHD.

Persistent falcine sinus and unilateral renal agenesis in a girl with Sotos syndrome.

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.

Ocular findings in a case of trisomy 18 with variant of Dandy-Walker syndrome.

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.

Successful weaning of a laryngeal mask airway after a tongue-lip adhesion operation in a case with cerebro-costo-mandibular syndrome.

Cerebro-costo-mandibular syndrome (CCMS) consists of severe micrognathia, glossoptosis, posterior rib-gap defects and developmental delay. It may cause upper airway obstruction andflail 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.

Exclusion of MYF5, GSC, RUNX2, and TCOF1 mutation in a case of cerebro-costo-mandibular syndrome.

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)].

Pfeiffer-like syndrome with holoprosencephaly: a newborn with maternal smoking and alcohol exposure.

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.

Sacral dysgenesis associated with terminal deletion of chromosome 7 (q36-qter).

We report on the clinical, cytogenetic, and imaging findings in a patient with a 7q terminal deletion. The 11-year-old girl had mental retardation, microcephaly, a distinctive face, relatively small hands and feet, and sacral dysgenesis. High resolution GTG banding (550-850 bands) showed a 7q terminal deletion.

Hydranencephaly associated with interruption of bilateral internal carotid arteries.

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.

Terminal deletion of chromosome 6q.

Terminal deletions of chromosome 6q are rare. Clinical features associated with 6q terminal deletion syndrome include psychomotor retardation, seizures, hypotonia, short neck, and facial abnormalities, as well as various case-specific anomalies. Here, we describe a girl with 6q terminal deletion syndrome and unusually short stature.

Trisomy 18 syndrome with incomplete Cantrell syndrome.

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.

A study of anthropomorphic and biochemical characteristics in girls with central precocious puberty and thelarche variant.

Background: Premature thelarche in later childhood may progress to central precocious puberty (CPP), which does not spontaneously resolve. Thelarche variant (TV) is a slowly progressive variant of precocious puberty.

Aim: To determine and compare levels of insulin-like growth factor-I (IGF-I), IGF binding protein-3 (IGFBP-3) and anthropomorphic measures in girls with TV and CPP.

Trisomy 18 with multiple rare malformations: report of one case.

Trisomy 18 syndrome is the second most common multiple malformation syndrome. The incidence is about 0.3 per 100 newborn babies.