Turner Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Turner Syndrome, including details on symptoms, causes, chromosomes, prognosis.

Proteomic Analysis of Amniotic Fluid in Pregnancies with Turner Syndrome Fetuses.

Mavrou A, Anagnostopoulos AK, Kolialexi A, Vougas K, Papantoniou N, Antsaklis A, Fountoulakis M, Tsangaris GT

Medical Genetics, Athens University School of Medicine, Athens, Greece, Proteomics Research Unit, Centre of Basic Research II, Biomedical Research Foundation, Academy of Athens, Athens, Greece, and 1st Department of Obstetrics & Gynaecology, Athens University School of Medicine, Athens, Greece gthtsangaris@bioacademy.gr.

Turner syndrome, occurring in 1:2500 female births, is caused by the complete or partial absence of one X chromosome. Amniotic fluid supernatant proteins from five second trimester pregnancies with Turner syndrome fetuses and five normal ones were analyzed by 2DE, MALDI-TOF-MS, and Western blot. Serotransferin, lumican, plasma retinol-binding protein, and apolipoprotein A-I were increased in Turner syndrome, while kininogen, prothrombin, and apolipoprotein A-IV were decreased. Since differentially expressed proteins are likely to cross the placenta barrier and be detected in maternal plasma, proteomic analysis may enhance research for noninvasive prenatal diagnosis of Turner syndrome.

Published 5 May 2008 in J Proteome Res, 7(5): 1862-1866.
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Articles on Turner Syndrome published 30 April 2008:

Rapid Prenatal Diagnosis of Common Aneuploidies in Amniotic Fluid Using Quantitative Fluorescent Polymerase Chain Reaction.   Gynecol Obstet Invest, 66(2): 104-110.

Background/Aims: Quantitative fluorescent polymerase chain reaction (QF-PCR) is a successful prenatal diagnostic method which has been regularly used for the diagnosis of common chromosomal abnormalities in recent years. This method provides diagnosis of common aneuploidies in a few hours after sampling with a high throughput, very low error rates and low cost. Methods: In this study, 576 amniotic fluid samples were analyzed for trisomies 13, 18, and 21 and sex chromosome aneuploidies using ... [Abstract] [Full-text]

Articles on Turner Syndrome published 29 April 2008:

Management of 239 patients with hypoplastic left heart syndrome and related malformations from 1993 to 2007.   Ann Thorac Surg, 85(5): 1691-6; discussion 1697.

BACKGROUND: We reviewed our entire programmatic operative experience with children with hypoplastic left heart syndrome (HLHS) and related malformations. METHODS: As of October 1, 2007, 239 patients with HLHS and related malformations underwent surgical treatment at the Congenital Heart Institute of Florida. This manuscript focuses on the 199 initially treated with Norwood stage 1. RESULTS: One hundred and ninety-nine patients were initially treated with Norwood stage 1. Univariate analysis ... [Abstract] [Full-text]

Articles on Turner Syndrome published 23 April 2008:

Cardiac status following childhood growth hormone treatment of Turner syndrome.   J Clin Endocrinol Metab.

Context: In Turner syndrome (TS) growth hormone (GH) treatment is well established. Data on cardiac status following discontinuation of treatment are scarce. This study aimed to assess biventricular size and function in TS at least 6 months after discontinuation of GH-treatment. Methods: TS patients and healthy women prospectively underwent cardiac MRI. Ventricular 2D tomographic cine data were acquired to obtain biventricular volume, mass and ejection fraction. Atrioventricular valve flow ... [Abstract] [Full-text]

Articles on Turner Syndrome published 22 April 2008:

Fracture risk and bone mineral density in Turner syndrome.   Rev Endocr Metab Disord, 9(2): 145-51.

Bone health is a major lifelong concern in caring for women and girls with Turner syndrome (TS). There is an approximately 25% increase in fracture risk most of which is related to medium or high impact trauma. The long bones, especially of the forearm are predominantly affected. This fact may be due to a selective cortical bone deficiency in TS which is unrelated to hypogonadism. In addition, lack of adequate estrogen replacement can lead to trabecular bone deficiency and increase in vertebral ... [Abstract] [Full-text]

Articles on Turner Syndrome published 18 April 2008:

Jugular lymphatic maldevelopment in Turner syndrome and trisomy 21: different anomalies leading to nuchal edema.   Reprod Sci, 15(3): 295-304.

Increased nuchal translucency (NT), morphologically known as nuchal edema, is an ultrasound marker for aneuploidy. Turner syndrome presents with massive NT, called cystic hygroma. Conflicting data exist as to whether cystic hygroma and increased NT are different entities. Both are associated with jugular lymphatic distension. The authors investigated jugular lymphatics of trisomy 21, Turner syndrome, and normal karyotype fetuses. Fetuses were investigated using immunohistochemistry for blood ... [Abstract] [Full-text]

Articles on Turner Syndrome published 16 April 2008:

The effect of growth hormone treatment on bone mineral density in prepubertal girls with Turner syndrome: a multicentre prospective clinical trial.   Clin Endocrinol (Oxf), 68(5): 769-72.

BACKGROUND: Patients with Turner syndrome (TS) are treated with GH to increase adult height. Although it is well established that GH promotes longitudinal bone growth, the effects of GH treatment on bone density are less clear. OBJECTIVE: To determine how GH treatment affects trabecular bone mineral density (BMD) in girls with TS at prepubertal ages in a prospective multicentre study. PATIENTS AND METHOD: Twenty-two patients with TS in the prepubertal period with a mean age of 9.8 +/- 2.5 ... [Abstract] [Full-text]

Articles on Turner Syndrome published 10 April 2008:

Turner syndrome and clinical treatment.   Br Med Bull.

Background Turner syndrome (TS) is a genetic disorder associated with abnormalities of the X chromosome, occurring in about 50 per 100 000 liveborn girls. TS is usually associated with reduced adult height, gonadal dysgenesis and thus insufficient circulating levels of female sex steroids leading to premature ovarian failure and infertility. The average intellectual performance is within the normal range. New insight into genetics, epidemiology, cardiology, endocrinology and metabolism from a ... [Abstract] [Full-text]

Articles on Turner Syndrome published 8 April 2008:

Palatine ridges and tongue position in Turner syndrome subjects.   Eur J Orthod, 30(2): 163-8.

Females with Turner syndrome (TS), X chromosome monosomy, are characterized with palates that are narrow in width, normal in height and which are commonly associated with the presence of lateral palatine ridges. The aim of the present study was to assess the relationship of tongue position, palatal dimensions, and the presence of the lateral palatine ridges in TS subjects. The study also aimed to evaluate the maternal contribution to the palatal dimensions of their TS daughters. The subjects ... [Abstract] [Full-text]

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