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1.
Biomedicines ; 11(3)2023 Mar 11.
Artículo en Inglés | MEDLINE | ID: mdl-36979841

RESUMEN

Preeclampsia (PE) occurs in women pregnant for more than 20 weeks with de novo hypertension and proteinuria, and is a devastating disease in maternal-fetal medicine. Cytokine tumor necrosis factor (TNF)-α may play a key role in the pathogenesis of PE. We conducted this study to investigate the regulatory regions of the TNF genes, by investigating two promoter polymorphisms, TNFA-308G/A (rs1800629) and -238G/A (rs361525), known to influence TNF expression, and their relationship to PE. An observational, monocentric, case-control study was conducted. We retrospectively collected 74 cases of severe PE and 119 pregnant women without PE as control. Polymerase chain reaction (PCR) was carried out for allele analysis. Higher A allele in women with PE was found in rs1800629 but not rs361525. In this study, we first found that polymorphism at the position -308, but not -238, in the promoter region of the TNF-α gene can contribute to severe PE in Taiwanese Han populations. The results of our study are totally different to previous Iranian studies, but have some similarity to a previous UK study. Further studies are required to confirm the roles of rs1800629 and rs361525 in PE with circulating TNF-α in PE.

2.
BMC Med Genomics ; 14(Suppl 3): 212, 2021 11 17.
Artículo en Inglés | MEDLINE | ID: mdl-34789231

RESUMEN

BACKGROUND: Skeletal dysplasia (SD) is one of the most common inherited neonatal disorders worldwide, where the recurrent pathogenic mutations in the FGFR2, FGFR3, COL1A1, COL1A2 and COL2A1 genes are frequently reported in both non-lethal and lethal SD. The traditional prenatal diagnosis of SD using ultrasonography suffers from lower accuracy and performed at latter gestational stage. Therefore, it remains in desperate need of precise and accurate prenatal diagnosis of SD in early pregnancy. With the advancements of next-generation sequencing (NGS) technology and bioinformatics analysis, it is feasible to develop a NGS-based assay to detect genetic defects in association with SD in the early pregnancy. METHODS: An ampliseq-based targeted sequencing panel was designed to cover 87 recurrent hotspots reported in 11 common dominant SD and run on both Ion Proton and NextSeq550 instruments. Thirty-six cell-free and 23 genomic DNAs were used for assay developed. Spike-in DNA prepared from standard sample harboring known mutation and normal sample were also employed to validate the established SD workflow. Overall performances of coverage, uniformity, and on-target rate, and the detecting limitations on percentage of fetal fraction and read depth were evaluated. RESULTS: The established targeted-seq workflow enables a single-tube multiplex PCR for library construction and shows high amplification efficiency and robust reproducibility on both Ion Proton and NextSeq550 platforms. The workflow reaches 100% coverage and both uniformity and on-target rate are > 96%, indicating a high quality assay. Using spike-in DNA with different percentage of known FGFR3 mutation (c.1138 G > A), the targeted-seq workflow demonstrated the ability to detect low-frequency variant of 2.5% accurately. Finally, we obtained 100% sensitivity and 100% specificity in detecting target mutations using established SD panel. CONCLUSIONS: An expanded panel for rapid and cost-effective genetic detection of SD has been developed. The established targeted-seq workflow shows high accuracy to detect both germline and low-frequency variants. In addition, the workflow is flexible to be conducted in the majority of the NGS instruments and ready for routine clinical application. Taken together, we believe the established panel provides a promising diagnostic or therapeutic strategy for prenatal genetic testing of SD in routine clinical practice.


Asunto(s)
Pruebas Genéticas , Secuenciación de Nucleótidos de Alto Rendimiento , Femenino , Humanos , Mutación , Embarazo , Diagnóstico Prenatal , Reproducibilidad de los Resultados , Análisis de Secuencia de ADN
3.
Taiwan J Obstet Gynecol ; 54(4): 385-9, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-26384055

RESUMEN

OBJECTIVES: The research was designed to examine the impact of the previous diagnoses of depression, menopause status, vasomotor symptoms, and neuroticism on depressive symptoms among menopausal women in Taiwan over a 30-month follow-up. MATERIALS AND METHODS: A community-based sample of 190 middle-aged women was enrolled. The Menopausal Symptoms Scale, Neuroticism Extraversion Openness Five Factor Inventory-Chinese version, and Ko's Depression Inventory were applied, and results were assessed. In addition, each woman underwent a semistructured diagnostic interview with the Chinese version of the Modified Schedule of Affective Disorders and Schizophrenia-Lifetime to obtain her lifetime psychiatric history. After 30 months, 111 participants completed follow-up questionnaires. RESULTS: Results of the hierarchical multiple regression analyses showed that depressive symptoms during the menopause transition predicted depressive symptoms over 30 months. After controlling for depressive symptoms during the menopause transition, the previous diagnoses of depression, menopause status, and vasomotor symptoms could not predict depressive symptoms over 30 months, whereas neuroticism still predicted depressive symptoms over 30 months. CONCLUSION: The research suggested that neuroticism plays an important role in the persistence of depression among climacteric women after 30 months.


Asunto(s)
Trastornos de Ansiedad/diagnóstico , Depresión/diagnóstico , Trastorno Depresivo/diagnóstico , Sofocos/diagnóstico , Menopausia/psicología , Trastornos de Ansiedad/epidemiología , Climaterio/fisiología , Climaterio/psicología , Estudios de Cohortes , Depresión/epidemiología , Trastorno Depresivo/epidemiología , Femenino , Estudios de Seguimiento , Sofocos/epidemiología , Humanos , Incidencia , Modelos Lineales , Menopausia/fisiología , Persona de Mediana Edad , Análisis Multivariante , Pruebas Neuropsicológicas , Neuroticismo , Muestreo , Índice de Severidad de la Enfermedad , Taiwán , Factores de Tiempo , Sistema Vasomotor/fisiopatología
4.
Taiwan J Obstet Gynecol ; 53(2): 197-201, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25017266

RESUMEN

OBJECTIVE: To determine the absent side of a single umbilical artery (SUA) and to evaluate whether associated anomalies are related to the side of the missing artery in a Taiwanese population. MATERIALS AND METHODS: We retrospectively studied SUA fetuses from our computer database of fetal ultrasound in a tertiary medical center in Southern Taiwan. All cases were diagnosed as SUA prenatally using conventional scanners of two- and three-dimensional (2D and 3D, respectively) ultrasound, as well as color, power, and high-definition Doppler. The absent side of UA and associated anomalies were analyzed. RESULTS: From September 2006 to November 2011, 31 fetuses with SUA were diagnosed prenatally by ultrasound and all were enrolled for this series. The incidence was estimated to be 1:556 (0.18% = 31/17,086). The mean maternal age was 29.2 years (range, 15-36 years) and the mean fetal age was 30.0 weeks of gestation (range 18-36 weeks). Notably, the left-absent UA was detected in 16/31 (52%) fetuses, compared with the right-absent UA in 15/31 (48%) cases. In addition, congenital anomalies were noted prenatally in 2/16 (13%) fetuses with left-absent UA and in 3/15 (20%) fetuses with right-absent UA. CONCLUSION: In SUA fetuses, the absence of UA appears to occur equally at each side. Moreover, this study showed no significant difference between either side of missing UA and associated anomalies after statistical examination.


Asunto(s)
Anomalías Congénitas/diagnóstico por imagen , Ultrasonografía Prenatal , Arterias Umbilicales/anomalías , Arterias Umbilicales/diagnóstico por imagen , Adolescente , Adulto , Femenino , Edad Gestacional , Humanos , Embarazo , Estudios Retrospectivos , Taiwán , Adulto Joven
5.
Taiwan J Obstet Gynecol ; 53(2): 215-9, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25017270

RESUMEN

OBJECTIVE: To test whether the interleukin-4 (IL-4) gene polymorphisms could be used as markers of susceptibility for preeclampsia in Taiwan. MATERIALS AND METHODS: This study included 78 women with preeclampsia and 125 normal controls. A polymerase chain reaction was used to analyze the variable number of tandem repeats polymorphism for the IL-4 gene intron 3. Restriction fragment length polymorphism analysis using endonuclease BsmFI was performed for the IL-4 gene at the promoter -590 position. The association between the genotype and disease was examined using Chi-square tests. RESULTS: We found no significant differences in the genotype distributions and allele frequencies for the IL-4 gene at both promoter and intron 3 regions between the preeclampsia and control groups. CONCLUSION: Even though this is the first study investigating the association between the promoter region and intron 3 polymorphisms of IL-4 and preeclampsia worldwide, our data do not support a role of the IL-4 gene in the pathogenesis of preeclampsia in Taiwanese women.


Asunto(s)
Predisposición Genética a la Enfermedad , Interleucina-4/genética , Preeclampsia/genética , Adulto , Biomarcadores , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Intrones , Repeticiones de Minisatélite , Polimorfismo Genético , Embarazo , Regiones Promotoras Genéticas , Taiwán
6.
Taiwan J Obstet Gynecol ; 53(2): 241-4, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25017277

RESUMEN

OBJECTIVE: McKusick-Kaufman syndrome (MKS) is a rare autosomal recessive syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). It is very difficult to diagnose MKS prenatally because of overlapping manifestations and associated anomalies with other syndromes. Herein, we present a case of MKS with prenatal ultrasound illustrating a fetal abdominal cystic mass. CASE REPORT: A 33-year-old woman, gravida 3 para 2, was referred to our obstetrics clinic at 34 weeks' gestation for fetal abdominal cyst detected by prenatal ultrasound. Our ultrasound illustrated a fetal abdominal cystic mass with two communicating components (suspected HMC) and polydactyly involving both hands and feet. At birth, the gross appearance revealed abdominal distention, vulva edema, and PAP. MKS was highly suspected. Abdominal computed tomography (CT) at 3 days of life showed HMC with a transverse vaginal septum. At 3 months of age, she received colpotomy and vaginal reconstruction to relieve the abdominal distension by HMC. Then she accepted corrections of PAP of both hands and feet at 8 months and 10 months. At 5 years of age, her body and mental development did not show any retardation. Pediatric ophthalmologic examination revealed no specific findings. Given the above evidences, the diagnosis of MKS was finally made at 5 years of age. CONCLUSION: Rare syndromes like MKS may need early comprehensive evaluations and consultations. Although prenatal diagnosis might be impossible for MKS, prenatal awareness by fetal ultrasound is very helpful to assist early management and maternal transfer. The final diagnosis and appropriate management of MKS requires the collaboration of obstetricians, geneticists, pediatricians, and ophthalmologists as soon as abnormal signs are detected in utero.


Asunto(s)
Anomalías Múltiples/diagnóstico , Anomalías Múltiples/cirugía , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/cirugía , Hidrocolpos/diagnóstico , Hidrocolpos/cirugía , Polidactilia/diagnóstico , Polidactilia/cirugía , Enfermedades Uterinas/diagnóstico , Enfermedades Uterinas/cirugía , Adulto , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Embarazo , Ultrasonografía Prenatal
7.
Menopause ; 21(11): 1239-48, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24714625

RESUMEN

OBJECTIVE: Glucosamine (GlcN) is a popular supplement for osteoarthritis in postmenopausal women. Although GlcN possibly induces insulin resistance, the effects of GlcN on ß-cell dysfunction are still obscure. METHODS: In the present study, we investigated changes in insulin production and ß-cell apoptosis in pancreatic islets after GlcN treatment in rats with or without ovariectomy and used MIN-6 cells to investigate the protective effects and molecular mechanisms of 17ß-estradiol (E2) in GlcN-induced ß-cell dysfunction. The rats were divided into four groups: (1) sham operation (SHAM; n = 8); (2) SHAM with 750 mg/kg/day GlcN injected intraperitoneally for 14 days (SHAM + GlcN; n = 10); (3) ovariectomy (OVX; n = 9); and (4) OVX with 750 mg/kg/day GlcN injected intraperitoneally for 14 days (OVX + GlcN; n = 9). RESULTS: Both GlcN and ovariectomy reduced the expression of insulin, determined by the staining intensity of insulin and reverse polymerase chain reaction. GlcN alone also induced ß-cell apoptosis, and this adverse effect was aggravated after ovariectomy. In addition, we found that GlcN decreased calcium influx and insulin secretion by decreasing the protein levels of inwardly rectifying potassium in the ATP-sensitive potassium channel. GlcN decreased the protein levels of endoplasmic reticulum (ER) stress-associated proteins, including C/EBP homologous protein, phospho-protein kinase-like endoplasmic reticulum kinase, phospho-eukaryotic initiation factor 2α, and phospho-c-Jun N-terminal kinase. Finally, GlcN decreased cell viability. E2 counteracted GlcN-mediated attenuation in intracellular calcium concentration, extracellular insulin secretion, protein levels of inwardly rectifying potassium, cell viability, and protein levels of ER stress-associated proteins. ICI182.780 inhibited these beneficial effects of E2. CONCLUSIONS: GlcN impairs insulin secretion of ß-cells by inhibiting Ca influx and enhancing ß-cell apoptosis with increases in ER stress-related proteins, whereas E2 counters these adverse effects of GlcN.


Asunto(s)
Estradiol/fisiología , Glucosamina/administración & dosificación , Células Secretoras de Insulina/efectos de los fármacos , Animales , Apoptosis/efectos de los fármacos , Calcio/metabolismo , Línea Celular , Retículo Endoplásmico/efectos de los fármacos , Estradiol/análogos & derivados , Estradiol/farmacología , Antagonistas de Estrógenos , Femenino , Fulvestrant , Expresión Génica/efectos de los fármacos , Insulina/análisis , Insulina/genética , Insulina/metabolismo , Secreción de Insulina , Células Secretoras de Insulina/química , Células Secretoras de Insulina/metabolismo , Ratones , Ovariectomía , ARN Mensajero/análisis , Ratas , Ratas Sprague-Dawley
8.
Cell Transplant ; 23(8): 959-79, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-23582375

RESUMEN

Human umbilical cord blood cells (HUCBCs) have been shown to be beneficial in reducing neurological deficits in rats with brain fluid percussion injury (FPI). This study aimed to assess the basic mechanisms underlying the neuroprotective effects of HUCBC-derived cluster of differentiation 34-positive (CD34⁺) cells. Rats were divided into three major groups: (i) sham-operated controls; (ii) FPI rats treated with phosphate-buffered saline (PBS); (iii) FPI rats treated with 0.2%, 50%, or 95% CD34⁺ cells (in 5 × 105 cord blood lymphocytes and monocytes). Intravenous (IV) administration of 0.3 ml of PBS, 0.2% CD34⁺ cells, 50% CD34⁺ cells, or 95% CD34⁺ cells was conducted immediately after FPI. It was found that 4 days post-FPI, CD34⁺ cells could be detected in the ischemic brain tissues for 50% CD34⁺ cell- or 95% CD34⁺ cell-treated FPI rats, but not for the PBS-treated FPI rats or the 0.2% CD34⁺ cell-treated FPI rats. CD34⁺ cell (0.2%)-treated FPI rats or PBS-treated FPI rats displayed neurological and motor deficits, cerebral contusion and apoptosis [e.g., increased numbers of both TUNEL (terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling)-positive cells and caspase-3-positive cells], and activated inflammation (e.g., increased serum levels of tumor necrosis factor-α). FPI-induced neurological motor dysfunction, cerebral contusion and apoptosis, and activated inflammation could be attenuated by 50% CD34⁺ or 95% CD34⁺ cell therapy. In addition 50% or 95% CD34⁺ cell therapy but not PBS or 0.2% CD34⁺ cell therapy significantly promoted angiogenesis (e.g., increased numbers of both vasculoendothelial growth factor-positive cells and 5-bromodeoxyuridine (BrdU)-endothelial double-positive cells), neurogenesis (e.g., increased numbers of both glial cell line-derived neurotrophic factor-positive cells and BrdU/neuronal nuclei double-positive cells) in the ischemic brain after FPI, and migration of endothelial progenitor cells from the bone marrow. Our data suggest that IV administration of HUCBC-derived CD34⁺ cells may improve outcomes of FPI in rats by stimulating both angiogenesis and neurogenesis.


Asunto(s)
Inductores de la Angiogénesis/farmacología , Antígenos CD34/metabolismo , Lesiones Encefálicas/terapia , Trasplante de Células Madre de Sangre del Cordón Umbilical/métodos , Animales , Lesiones Encefálicas/patología , Humanos , Masculino , Neovascularización Fisiológica/fisiología , Neurogénesis/fisiología , Distribución Aleatoria , Ratas , Ratas Sprague-Dawley
9.
Taiwan J Obstet Gynecol ; 52(2): 192-6, 2013 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-23915850

RESUMEN

OBJECTIVE: In order to compare the trends and improvements of prenatal diagnosis of gastroschisis, we herein retrospectively reviewed our cases of fetal gastroschisis detected by three-dimensional ultrasound (3D US) between the two centuries. MATERIALS AND METHODS: We reviewed our computer database of prenatal diagnosis on gastroschisis in National Cheng Kung University Hospital from October 1994 to November 2011. All the fetuses were initially scanned by two-dimensional (2D) US to locate the region of interest (ROI). Then, the 3D probe was used to scan all the ROI systematically and mechanically, and all the images were stored on laser discs for further 3D visualization and reconstruction. To compare the characteristics at prenatal diagnosis of gastroschisis between the 20th and 21st centuries in our hospital, the Chi-square test and Student t test were used. The p values less than 0.05 and 0.1 were considered statistically significant. RESULTS: In total, 26 fetuses with gastroschisis were depicted by 3D US in utero (10 cases were diagnosed in the 20th century and 16 cases in the 21st century). The ranges of gestational age at prenatal diagnosis of gastroschisis by 3D US in the 20th century were between 14 and 34 weeks (mean: 21.6 weeks) and between 14 and 33 weeks (mean: 21.9 weeks) in the 21st century. Moreover, seven cases (70%) were diagnosed before the third trimester in the 20th century, whereas 13 cases (81%) were diagnosed before the third trimester in the 21st century. CONCLUSION: Although without statistical significance, higher prenatal diagnosis rate before the third trimester in the 21st century was noted. The improvement of 3D US has remarkable advantages in adding novel visual depiction of a 3D lesion of a 3D fetus in 3D US after reconstruction and thus assists substantially in prenatal diagnosis, genetic consultation, and perinatal management of gastroschisis.


Asunto(s)
Enfermedades Fetales/diagnóstico por imagen , Gastrosquisis/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Ultrasonografía Prenatal/tendencias , Adolescente , Adulto , Bases de Datos Factuales , Femenino , Edad Gestacional , Humanos , Imagenología Tridimensional/métodos , Imagenología Tridimensional/tendencias , Embarazo , Estudios Retrospectivos , Adulto Joven
10.
Taiwan J Obstet Gynecol ; 52(2): 258-63, 2013 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-23915861

RESUMEN

UNLABELLED: An omphalocele, a fetal abdominal defect, is a very important congenital anomaly. Prenatal diagnosis of fetal omphalocele is crucial to clinical management. OBJECTIVE: To investigate the accuracy of prenatal diagnosis for fetal omphalocele, we undertook a retrospective and consecutive analysis of our ultrasound database between January 1994 and December 2011. MATERIALS AND METHODS: In total, ultrasound (US) detected 52 fetuses with an omphalocele in utero. RESULTS: The incidence of fetal omphalocele is estimated as 1:1249 (0.08%). We also compared the gestational age at US diagnosis between the two centuries. In the 20(th) century, 22 cases of omphalocele were detected: four (18%) cases at first trimester, 17 (77%) cases at second trimester, and 1 (5%) case at third trimester. In the 21(st) century, 30 cases of omphalocele were detected: 13 (43%) cases at first trimester, 15 (50%) cases at second trimester, and two (7%) cases at third trimester. The gestational age at diagnosis of omphalocele is significantly earlier in the 21(st) century than in the last century. CONCLUSION: With the advancement and improvement in US equipment, the early detection of fetal omphalocele is feasible, which will substantially contribute to fetal wellbeing.


Asunto(s)
Enfermedades Fetales/diagnóstico por imagen , Hernia Umbilical/diagnóstico por imagen , Ultrasonografía Prenatal/tendencias , Adulto , Femenino , Enfermedades Fetales/epidemiología , Edad Gestacional , Hernia Umbilical/epidemiología , Humanos , Incidencia , Masculino , Embarazo , Reproducibilidad de los Resultados , Estudios Retrospectivos , Ultrasonografía Prenatal/normas , Adulto Joven
11.
Taiwan J Obstet Gynecol ; 52(1): 46-52, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23548217

RESUMEN

OBJECTIVES: The accuracy of ultrasound (US) measurements is operator dependent. In order to decrease the operator-dependent errors in estimated fetal weight (EFW), a model selection analysis was undertaken to select significant compensation weighting factors on ultrasonographic parameters to support artificial neural network (ANN), and thus to enhance the accuracy of fetal weight estimation. MATERIALS AND METHODS: In total, 2127 singletons were examined by prenatal US within 3 days before delivery for ANN development, and another 100 cases were selected from new operators for evaluation. First, correlation analysis was used to analyze the differences between the prenatal and postnatal parameters. Second, Akaike information criterion (AIC) was used to determine the number of database partition and optimal weightings for compensating the input parameters of the ANN model. Finally, minimum mean squared error (MMSE) mode was utilized to determine the optimal EFW. RESULTS: EFW of the proposed compensation model using AIC and MMSE showed mean absolute percent error of 5.1 ± 3.1% and mean absolute error of 158.9 ± 96.2 g. When comparing the accuracy of EFW, our model using AIC and MMSE was superior to those conventional EFW formulas (all p < 0.05). CONCLUSION: We proved that performing the parameter compensation (by AIC) and model compensations (by MMSE) for the ANN model can improve EFW accuracy. Our AIC-MMSE model of EFW will contribute to the improvement of accuracy when adding new US datasets measured by new operators.


Asunto(s)
Peso Fetal , Redes Neurales de la Computación , Ultrasonografía Prenatal/métodos , Algoritmos , Femenino , Humanos , Masculino , Modelos Estadísticos , Variaciones Dependientes del Observador , Embarazo , Análisis de Regresión , Estudios Retrospectivos
12.
Taiwan J Obstet Gynecol ; 52(1): 90-6, 2013 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23548226

RESUMEN

OBJECTIVE: Congenital cystic adenomatoid malformation of the lung (CCAML) is one of the most common lung lesions diagnosed prenatally. In order to compare the trends and improvements of prenatal diagnosis of CCAML, we herein retrospectively reviewed our cases of fetal CCAML detected by three-dimensional ultrasound (3-D US) between two centuries. MATERIALS AND METHODS: We reviewed our computer database of prenatal diagnosis of CCAML in National Cheng Kung University Hospital from October 1994 to November 2011. All of the fetuses were initially scanned by two-dimensional (2-D) US to locate the region-of-interest (ROI). Then, the 3-D probe was used to scan all of the ROI systematically and mechanically, and the images were stored in the laser discs for further 3-D visualization and reconstruction. To compare the characteristics at prenatal diagnosis of CCAML between the 20th and 21st centuries in our hospital, Chi-square tests were undertaken. A p value <0.05 was considered as statistically significant. RESULTS: In total, 58 fetuses with CCAML were depicted by 3-D US in utero (12 cases were diagnosed in the 20th century and 46 cases in the 21st century). The ranges of gestational age at prenatal diagnosis of CCAML by 3-D US in the 20th century were between 15 and 36 weeks (mean=24 weeks), and were between 16 and 31 weeks (mean=22 weeks) in the 21st century. Moreover, nine cases (75%) were diagnosed at the second trimester in the 20th century, whereas 44 cases (96%) were diagnosed at the second trimester in the 21st century. CONCLUSION: The advancement of 3-D US has remarkable advantages in adding novel visual depiction of a 3-D lesion of a 3-D fetus in 3-D US after reconstruction, and thus assists substantially in the prenatal diagnosis and genetic consultation of CCAML. Furthermore, the trend analysis in this series showed a significantly earlier gestational age at prenatal diagnosis of CCAML in the 21st century than that in the 20th century.


Asunto(s)
Malformación Adenomatoide Quística Congénita del Pulmón/diagnóstico por imagen , Imagenología Tridimensional , Ultrasonografía Prenatal/métodos , Adulto , Femenino , Humanos , Imagenología Tridimensional/tendencias , Embarazo , Segundo Trimestre del Embarazo , Tercer Trimestre del Embarazo , Estudios Retrospectivos , Taiwán , Ultrasonografía Prenatal/tendencias
14.
Eur J Med Genet ; 56(4): 197-201, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-23395980

RESUMEN

Non-mosaic trisomy 16 is rarely seen in later gestation. Herein, we report a fetus with uniparental complete trisomy 16 manifesting with asplenia syndrome, left hand deformity (only 3 deformed fingers on the left hand) and a left low-set ear. The pregnancy ended in severe placental abruption and resultant fetal demise, and maternal hypovolemic shock at 35 weeks of gestation. Only 3 non-mosaic trisomy 16 fetuses, including this case, have been reported to survive into the second or third trimester. Furthermore, this fetus would be the first case of complete trisomy 16 manifesting as asplenia syndrome.


Asunto(s)
Desprendimiento Prematuro de la Placenta/genética , Síndrome de Heterotaxia/genética , Trisomía/genética , Desprendimiento Prematuro de la Placenta/diagnóstico , Adulto , Cromosomas Humanos Par 16/genética , Femenino , Feto/anomalías , Síndrome de Heterotaxia/diagnóstico , Humanos , Mosaicismo , Embarazo , Resultado del Embarazo/genética , Choque/diagnóstico , Choque/genética
15.
Taiwan J Obstet Gynecol ; 51(3): 387-92, 2012 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23040922

RESUMEN

OBJECTIVE: Fetal osteogenesis imperfecta (OI) is a heterogeneous group of collagen disorders characterized by bone fragility, blue sclerae, deafness, and dentinogenesis imperfecta. Ultrasonography is acknowledged as a reliable diagnostic modality for the prenatal diagnosis of OI, especially type II. In the past, two-dimensional (2D) ultrasound (US) has been applied as the mainstay of prenatal diagnosis of OI. In this series, we report our work of detecting OI using three-dimensional (3D) US. MATERIAL AND METHODS: We reviewed our computer database of prenatal diagnosis of OI at the National Cheng Kung University Hospital from April 1996 to July 2010. All the cases were scanned by 2D and 3D US. In total, six cases of fetal OI were diagnosed. RESULTS: Compared with 2D US, 3D US can detect fetal OI precisely, and provide additional vivid illustration after various modes of reconstruction that 2D US cannot. CONCLUSION: In conclusion, 3D US may contribute significantly to the detection of OI in utero and provide a novel visual depiction of this defect after reconstruction. The technique may thus substantially assist in prenatal diagnosis as well as consultations for fetal OI.


Asunto(s)
Imagenología Tridimensional , Osteogénesis Imperfecta/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Adulto , Femenino , Humanos , Embarazo , Segundo Trimestre del Embarazo , Estudios Retrospectivos
16.
Taiwan J Obstet Gynecol ; 51(2): 240-4, 2012 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-22795101

RESUMEN

OBJECTIVE: To identify associations between the interleukin-1ß gene and preeclampsia in Taiwanese women. METHODS AND MATERIALS: We genotyped Taiwanese population (102 women with preeclampsia and 148 controls) for two polymorphisms of the interleukin-1ß gene (promoter region and Exon 5) by using polymerase chain reaction and restriction fragment length polymorphism analysis. The association between the genotype and disease was examined by Chi-square tests. RESULTS: We found no association between the two polymorphic sites of interleukin-1ß gene and preeclampsia. No significant differences were detected in genotype distributions and allele frequencies of the AvaI polymorphism at position -511 in the promoter region and the TaqI polymorphism at position +3953 within Exon 5. CONCLUSION: Our data do not support a role of the interleukin-1ß gene in the pathogenesis of preeclampsia in Taiwanese women.


Asunto(s)
Pueblo Asiatico/genética , Interleucina-1beta/genética , Polimorfismo Genético , Preeclampsia/genética , Alelos , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Embarazo , Taiwán
17.
Taiwan J Obstet Gynecol ; 51(1): 50-4, 2012 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-22482968

RESUMEN

OBJECTIVE: Endometriosis is an estrogen-dependent disease. The aim of this study was to evaluate the different expression of estrogen receptors (ER) and its relation to hypoxia inducible factor-1α (HIF-1α) in stromal cells from women with endometriosis. MATERIALS AND METHODS: Paired eutopic endometrial and ectopic endometriotic stromal cells were isolated from women with endometriosis while they underwent laparoscopy. The expression of ERα and ERß was measured by reverse transcription-polymerase chain reaction and Western blot. Regulation of ER expression was evaluated by HIF-1α knockdown via short interference RNA. RESULTS: The expression of ERß was significantly increased in ectopic stromal cells. Treatment of endometrial stromal cells with hypoxia induced ERß expression. Knockdown of HIF-1α abolished hypoxia-induced ERß expression and increased ERα expression. CONCLUSION: The expression of ERß is regulated by hypoxia. Results of this study will provide important information in the involvement of hypoxia factors in mediating estrogen action via different ER expression in endometriosis.


Asunto(s)
Hipoxia de la Célula , Receptor alfa de Estrógeno/metabolismo , Receptor beta de Estrógeno/metabolismo , Subunidad alfa del Factor 1 Inducible por Hipoxia/metabolismo , Células del Estroma/metabolismo , Endometriosis/metabolismo , Endometrio/metabolismo , Femenino , Humanos , Subunidad alfa del Factor 1 Inducible por Hipoxia/efectos de los fármacos , ARN Mensajero/metabolismo , ARN Interferente Pequeño/farmacología
18.
Menopause ; 19(5): 496-502, 2012 May.
Artículo en Inglés | MEDLINE | ID: mdl-22240637

RESUMEN

OBJECTIVE: Glucosamine (GlcN) is a popular nutritional supplement used to treat osteoarthritis in postmenopausal women. Postmenopausal women are at higher risk of type 2 diabetes mellitus and metabolic syndrome because of ovarian hormone deficiency. We used ovariectomized (OVX) rats as the model to investigate whether GlcN would induce insulin resistance (IR) in OVX rats and the underlying mechanisms. METHODS: The rats were divided into four groups: (1) sham-operated group (SHAM), (2) SHAM with GlcN treatment (SHAM + GlcN), (3) OVX group, (4) OVX with GlcN treatment (OVX + GlcN). Intraperitoneal (IP) GlcN was given at 12 weeks after the surgical procedure for 2 weeks. The IP glucose tolerance test (IPGTT) was performed to measure plasma glucose and insulin and to calculate the clinical homeostasis model assessment-IR (HOMA-IR) and glucose-insulin index. Western blot analysis for the detection of glucose transport protein subtype 4 expression in the skeletal muscle and histopathological examination of the changes in pancreatic islets were also performed. RESULTS: Fasting plasma glucose increased in the OVX + GlcN group, and fasting plasma insulin and HOMA-IR were elevated more significantly in this group. In addition, plasma glucose, plasma insulin, HOMA-IR, and glucose-insulin index were significantly elevated only in the OVX with GlcN group after IP glucose injection, implying that IR was induced by GlcN only in female rats without the protection of ovarian hormone. In addition, we found that treatment with GlcN decreased the expression of glucose transport protein subtype 4 in the skeletal muscle and induced pancreatic islet hyperplasia only in OVX rats. CONCLUSIONS: The results demonstrate that female rats do not develop IR upon GlcN treatment except after ovariectomy. Those who take GlcN after menopause or bilateral oophorectomy should watch their blood glucose level closely, especially after meals.


Asunto(s)
Suplementos Dietéticos/efectos adversos , Glucosamina/efectos adversos , Transportador de Glucosa de Tipo 4/metabolismo , Resistencia a la Insulina , Islotes Pancreáticos/patología , Posmenopausia , Animales , Glucemia/efectos de los fármacos , Glucemia/metabolismo , Peso Corporal , Femenino , Prueba de Tolerancia a la Glucosa , Hiperplasia , Insulina/sangre , Músculo Esquelético/metabolismo , Ovariectomía , Ratas , Ratas Sprague-Dawley
19.
Taiwan J Obstet Gynecol ; 51(4): 545-53, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23276557

RESUMEN

OBJECTIVES: A novel analysis was undertaken to select a significant ultrasonographic parameter (USP) for classifying fetuses to support artificial neural network (ANN), and thus to enhance the accuracy of fetal weight estimation. METHODS: In total, 2127 singletons were examined by prenatal ultrasound within 3 days before delivery. First, correlation analysis was used to determine a significant USP for fetal grouping. Second, K-means algorithm was utilized for fetal size classification based on the selected USP. Finally, stepwise regression analysis was used to examine input parameters of the ANN model. RESULTS: The estimated fetal weight (EFW) of the new model showed mean absolute percent error (MAPE) of 5.26 ± 4.14% and mean absolute error (MAE) of 157.91 ± 119.90 g. Comparison of EFW accuracy showed that the new model significantly outperformed the commonly-used EFW formulas (all p < 0.05). CONCLUSION: We proved the importance of choosing a specific grouping parameter for ANN to improve EFW accuracy.


Asunto(s)
Antropometría/métodos , Peso Fetal , Redes Neurales de la Computación , Ultrasonografía Prenatal , Algoritmos , Peso al Nacer , Femenino , Edad Gestacional , Humanos , Masculino , Valor Predictivo de las Pruebas , Embarazo , Análisis de Regresión , Estudios Retrospectivos , Estadísticas no Paramétricas
20.
Taiwan J Obstet Gynecol ; 51(4): 596-602, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23276564

RESUMEN

OBJECTIVE: To demonstrate the usefulness of three-dimensional (3D) ultrasound in prenatal diagnosis of fetal multicystic dysplastic kidney (MCDK) disease. METHODS: In our previous study, we demonstrated that using 3D ultrasound in conjunction with traditional two-dimensional (2D) ultrasound can facilitate the diagnosis of MCDK. In this study, we followed all the MCDK cases diagnosed in our center in the recent decade (from 2002 to 2011) and compared the results with the data collected in the prior decade (from 1995 to 2002). RESULTS: Between 2002 and 2011, a total of 39 cases with fetal MCDK diagnosed by 2D and 3D ultrasound were retrospectively analyzed. The average gestational age when the diagnosis of MCDK was made was 23.6 weeks of gestation (95% confidence interval: 22.09-25.09). The Pearson chi-square test revealed a borderline nonsignificant difference statistically in the categorized gestational age at diagnosis (p = 0.052) as compared to the gestational age in the prior study. The average amniotic fluid index in fetuses with unilateral and bilateral MCDK was 16.76 ± 3.34 and 4.78 ± 5.82, respectively (p < 0.001). MCDK was not found to be associated with gestational age or chromosomal anomalies in our study. CONCLUSION: The surface-rendering mode of 3D ultrasound is very useful in prenatal diagnosis and counseling for MCDK.


Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Líquido Amniótico/diagnóstico por imagen , Imagenología Tridimensional , Riñón Displástico Multiquístico/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Adolescente , Adulto , Distribución de Chi-Cuadrado , Aberraciones Cromosómicas , Intervalos de Confianza , Femenino , Edad Gestacional , Humanos , Cariotipo , Riñón Displástico Multiquístico/genética , Embarazo , Estudios Retrospectivos , Ultrasonografía Prenatal/tendencias , Adulto Joven
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