| 1. |
- Landin-Wilhelmsen, Kerstin, 1952, et al.
(författare)
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Spontaneous pregnancies in a Turner syndrome woman with Y-chromosome mosaicism.
- 2004
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Ingår i: Journal of assisted reproduction and genetics. - 1058-0468. ; 21:6, s. 229-30
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To present a case involving pregnancies in a Turner woman with Y-chromosome mosaicism. METHOD: A descriptive case report of a single patient. RESULTS: A 39-year-old woman was admitted to the endocrine clinic due to fatigue and premature menopause. She had tried in-vitro fertilization and oocyte donation twice without pregnancies but became spontaneously pregnant at age 36 and 37 and delivered two girls. During the seventh month of the second pregnancy, a dissecting aortic aneurysm, a coarctation, and subsequently a pheochromocytoma were detected and repaired. Hypothyroidism developed. Turner syndrome was diagnosed. Fluorescence in situ hybridization (FISH) analysis of lymphocytes revealed 31% XY cells and 4% XYY cells, while 66% of buccal cells had an XY constitution. Oophorectomy revealed no malignancy. FISH revealed 54% XY cells in the left gonad and 38% XY cells in the right. CONCLUSION: Turner syndrome should be suspected in women with aortic dissection, in general, but especially in those with additional features such as horseshoe kidney, coarctation, and infertility.
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| 2. |
- Barrenäs, Marie-Louise, 1952, et al.
(författare)
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Ear and hearing in relation to genotype and growth in Turner syndrome.
- 2000
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Ingår i: Hearing research. - 0378-5955. ; 144:1-2, s. 21-8
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Tidskriftsartikel (refereegranskat)abstract
- Hearing loss, auricular anomalies and middle ear infections are common findings in many genetic disorders, but the mechanisms have remained unknown. We studied ear and hearing problems in Turner's syndrome (TS) in relation to the degree of X chromosome loss (i.e. degree of mosaicism) and growth. One hundred and nineteen girls and women with TS were studied regarding audiometry, fluorescent in situ hybridisation, serum concentration of insulin-like growth factor-1 (IGF-1) and body height. It was found that sensorineural hearing loss and occurrence of auricular anomalies were significantly increased the greater the proportion of 45,X cells in a particular individual (P<0.05 and P<0.001, respectively). Middle ear infections and sensorineural hearing loss were negatively correlated with IGF-1 (P<0.05 and P<0.001, respectively). Hearing correlated positively with height (P<0.01) and IGF-1 independently of age (P<0.05). Height correlated positively with IGF-1 (P<0.001). Auricular malformations, middle ear infections and hearing impairment in TS were interpreted as due to growth disturbances during development. A new hypothesis on the pathophysiology of external, middle and inner ear disorders due to a delayed cell cycle caused by chromosomal aberrations per se and not only to the specific X chromosome deletion is presented.
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| 3. |
- Hardarson, Thorir, 1967, et al.
(författare)
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Time-lapse recordings of human corneal epithelial healing
- 2004
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Ingår i: Acta Ophthalmologica Scandinavica. - 1395-3907. ; 82, s. 184-8
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Tidskriftsartikel (refereegranskat)abstract
- Time-lapse recordings of human corneal epithelial healing.Hardarson T, Hanson C, Claesson M, Stenevi U. Department of Obstetrics and Gynaecology, Gothenburg University, Gothenburg, Sweden. PURPOSE: The aim of this study was to design an experimental set-up for the study of human corneal epithelial wound healing in a controlled in vitro situation. METHODS: A time-lapse set-up was used. This allowed for pictures to be captured with a magnification ranging from x 80 to x 1800. Pictures were captured at 1-min intervals during the observation period, which lasted up to 4 days. Human corneal tissue was obtained from the Eye Bank or from surgery. A small, rounded lesion was produced in the corneal epithelium with a miniature drill. The specimens were placed in a mini-incubator; the camera focused on the epithelial lesion and continuously observed using the time-lapse set-up. RESULTS: The healing process of human corneal epithelium could be followed for several days. The initial healing response could be divided into a slow, a rapid and a consolidating phase. The first two phases lasted about 12 hours, and by then, epithelial cells covered the lesion. Depending on the origin of the tissue and the placement of the lesion, variations in the healing response could be seen. CONCLUSION: The time-lapse technique makes it possible to study epithelial wound healing over time at the cellular level. Data collected in this way can fill the gap between in vivo studies, where, by nature, human wound healing studies are restricted, and cell culture techniques, where cellular responses in many cases differ from the in vivo situation. PMID: 15043538 [PubMed - indexed for MEDLINE]
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| 4. |
- Heins, Nico, et al.
(författare)
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Derivation, characterization, and differentiation of human embryonic stem cells.
- 2004
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Ingår i: Stem cells (Dayton, Ohio). - 1066-5099. ; 22:3, s. 367-76
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Tidskriftsartikel (refereegranskat)abstract
- The derivation of human embryonic stem (hES) cells establishes a new avenue to approach many issues in human biology and medicine for the first time. To meet the increased demand for characterized hES cell lines, we present the derivation and characterization of six hES cell lines. In addition to the previously described immunosurgery procedure, we were able to propagate the inner cell mass and establish hES cell lines from pronase-treated and hatched blastocysts. The cell lines were extensively characterized by expression analysis of markers characteristic for undifferentiated and differentiated hES cells, karyotyping, telomerase activity measurement, and pluripotency assays in vitro and in vivo. Whereas three of the cell lines expressed all the characteristics of undifferentiated pluripotent hES cells, one cell line carried a chromosome 13 trisomy while maintaining an undifferentiated pluripotent state, and two cell lines, one of which carried a triploid karyotype, exhibited limited pluripotency in vivo. Furthermore, we clonally derived one cell line, which could be propagated in an undifferentiated pluripotent state.
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