Prenatal diagnosis of low level trisomy 15 mosaicism: review of the literature

Low level chromosome mosaicism found at amniocentesis is problematic for clinicians and patients. We report prenatal diagnosis of a fetus with a rare karyotype of 47.XX, + 15/46, XX. Second trimester amniocentesis was performed for advanced maternal age. Fetal ultrasound revealed a hypoplastic right ventricle and intrauterine growth retardation (IUGR). The rest of the fetal anatomy was within normal limits. A mosaic karyotype of 47.XX, + 15/46, XX was observed. The couple interrupted the pregnancy at 19 weeks by dilation and suction evacuation. Careful evaluation of multiple pieces of fetal parts and placenta revealed one abnormal finding: a single umbilical artery. Cytogenetic metaphase and fluorescent in situ hybridization (FISH) interphase analyses of cells from fetal lung, heart, placenta, and skin revealed the presence of the trisomic line in all tissues. Molecular analysis demonstrated that the origin of the extra chromosome 15 was maternal, the error most likely occurred in meiosis I and the diploid line was of biparental inheritance. This case report discusses the associated findings in this fetus and reviews the literature describing other cases of mosaic trisomy 15.     

Fetal fibronectin as a predictor of spontaneous preterm labour in asymptomatic women with a cervical cerclage

Objective  To assess the accuracy of fetal fibronectin (fFN) testing for prediction of preterm labour in asymptomatic high-risk women with a cervical cerclage.
Design  Retrospective observational study.
Setting  United Kingdom.
Population  Nine hundred and ten asymptomatic women at high-risk of Preterm birth referred to specialist antenatal clinics and undergoing fFN testing between November 1997 and December 2007.
Methods  Women had fFN tests taken between 23⁺⁰ and 27⁺⁶ weeks' gestation, on one or more occasions.
Main outcome measures  Sensitivity, specificity, positive predictive values and negative predictive values of fFN testing for predicting delivery <30 and <37 weeks were compared in those with and without cerclage.
Results  For delivery <30 weeks' gestation, the specificity of fFN testing was significantly lower in women with cervical cerclage (77% vs 90%; P  ≤ 0.00001). The sensitivity of the test was similar between the groups (78.6 (no-cerclage) vs 60% (cerclage); P  > 0.4). The negative predictive value of the fFN test for delivery <30 weeks was high in both groups (>98%).
Conclusions  Asymptomatic high-risk women with cerclage in situ are more likely to have a false positive fFN test. The negative predictive value is similar.     

Body size,biological maturation,and sport participation related to cortical bone in adolescent girls

The purposes of this study were twofold: (1) to describe the growth of metacarpal bone dimensions in a large sample (n = 819) of Flemish girls, 12–18 years, and (2) to investigate the relationship among cortical bone dimensions, biological maturation, and participation in sports activities. Besides body mass and stature, Tanner-Whitehouse skeletal age (SA) was estimated and menarcheal status was assessed. Second metacarpal bone dimensions were measured on radiographs. Sports participation was determined by a standardized questionnaire. Results show that whereas medullary diameter decreased, all other second metacarpal dimensions increased significantly with age. When the girls were divided into five subgroups by SA, significant differences were found for metacarpal bone dimensions among the groups. Analysis of covariance revealed that skeletal maturity significantly differentiated for medullary diameter, cortical thickness, cortical area, and percent cortical area, even when chronological age, body mass, and stature were partialled out. However, no differences were found between contrasting SA groups for metacarpal length and periosteal diameter when chronological age, body mass, and stature were held constant. The metacarpals of postmenarcheal girls are ～4% longer and ～7% wider, and had ～14% more bone area than age-matched, premenarcheal peers. No differences were found in periosteal diameter between pre- and postmenarcheal 14–15-year-old girls. Finally, sports participation was not associated with cortical bone in this group of healthy females (?0.16 ≤ r ≤ 0.17). © 1994 Wiley-Liss, Inc.     

Quercetin Attenuates Benzo(α)pyrene-induced CYP1A Expression

<正>We studied effects of nutrient quercetin on cytochromes’Р450 1А(CYP1A)activities(measured spectrofluorimetrically using 7-ethoxy-resorufin for CYP1A1 and 7-methoxy-resorufin for CYP1A2 as substrates),on mR NA levels(measured by RT-PCR),and on DNA-binding activities(evaluated by an electrophoretic mobility shift assay)of proteins regulating CYP1A expression in untreated and benzo(α)pyrene(Ba P)-treated rats.Wistar rats     

Serum Zinc Levels in Cutaneous Disorders

Serum zinc levels were studied in 75 patients of different cutaneous disorders and 24 healthy controls. It was found to be significantly lower in acne vulgaris (71.5 ± 21.5µgm/100ml), leprosy(85.9 ± 26.9µgm/100ml) and psoriasis (93.3 ± 25.9µgm/100ml) as compared to healthy controls (105.3 ± 30.1µgm/100ml). No significant correlation was found in other cutaneous disorders studied i.e. vitiligo and aphthous ulcers where serum zinc levels were found to be 97.3 ± 26.6 µgm/100ml and 105.2 ± 23.5 µgm/100ml respectively.Key Words: Acne vulgaris, Aphthous ulcers, Leprosy, Psoriasis, Vitiligo, Zinc     

Neonatal duodenum: fluid-aided US examination

In 261 infants with vomiting, 11 duodenal abnormalities were diagnosed with fluid-aided ultrasound (US). These abnormalities included duodenal obstruction, malrotation with and without associated volvulus, incomplete rotation, and duodenal stenosis. US was the initial modality used in the evaluation of vomiting in these neonates and young infants. The overall sensitivity and specificity of fluid-aided US evaluation of duodenal abnormalities were 100% and 99%, respectively. (Workup bias limits the reliability of these figures.) Fluid-aided US examination of the stomach and duodenum provided a dynamic view of duodenal rotation and anatomy, and at the very least provided a method of triaging those infants who may require surgery, upper gastrointestinal series, or follow-up US to make a definitive diagnosis.     

Suitability of hair type for dermatophytes perforation and differential diagnosis of T. mentagrophytes from T. verrucosum

Most of the dermatophyte species have the ability to perforate hair structure and consume its contents of keratin through secretion of keratinase enzyme. Two clinical isolated species of dermatophytes were diagnosed as Trichophyton mentagrophytes var. granulosum and Trichophyton verrucosum. To determine the perforation ability, the isolated fungi were incubated with the hair of four different animals (rabbit, rat, cow and cat) and human hairs with three different colours (black, albino and bleached yellow) for different periods. Variable perforating ability of T. mentagrophytes was shown in rat hair and all types of human hair after 15 days, while other mammalian hairs exhibited resistance to this fungal activity. On the other hand, T. verrucosum was revealed a slow perforating ability, which needed a long time (60 days) for most of tested hairs. Perforation of human black hair could be considered a diagnostic test for differentiation between T. mentagrophytes and T. verrucosum. In conclusion, the treated or untreated human hair was considered more suitable to use as a source of keratin for the growth of dermatophytes than animal hairs. The human black hair was a best type of hair to use in the perforating test for differentiation between T. mentagrophytes and T. verrucosum.     

低氧调节途径的分子生物学基础(低氧可作为肿瘤治疗的一种靶目标)

作者以综述形式论述了肿瘤低氧调节途径的分子生物学基础,并分析了利用低氧调节途径的阻断来治疗肿瘤的几种可行性途径。低氧可导致机体的一系列反应,包括糖酵解、红细胞生成、血管生成、肾上腺素信号传导的改变和血管内皮细胞的增殖等。肿瘤细胞的低氧可导致肿瘤新生血管的形成、浸润性增强、放射敏感性降低、预后变差。而肿瘤细胞又和正常细胞一样,都存在着“氧感应”途径,即低氧通过“血素氧化还原酶”激活氧信号传导系统,导致一系列低氧调节基因的表达。已知的低氧调节基因有:红细胞生成素(ＥＰＯ)、血管内皮生长因子(ＶＥＧＦ)、糖酵解…     

Adriamycin and daunomycin generate reactive oxygen compounds in erythrocytes

Adriamycin and daunomycin produce dose-related cardiac toxicity that may be related to oxygen radicals. Addition of these compounds to human erythrocyte suspensions resulted in stimulation of hexose monophosphate shunt activity that was markedly impaired in the absence of oxyhemoglobin. Evidence for generation of hydrogen peroxide by these compounds was provided by oxidation of reduced glutathione, by 14C- formate oxidation, and by the catalase-aminotriazole trapping technique. These experiments indicate that Adriamycin and daunomycin interact with oxyhemoglobin to generate reactive oxygen metabolites. A similar interaction with oxymyoglobin may occur in the heart and produce oxygen radicals that injure cardiac myocytes.     

Effect of climate therapy at Gran Canaria on vitamin D production, blood glucose and lipids in patients with psoriasis

Background Climate therapy (heliotherapy) of psoriasis is an effective and natural treatment. Ultraviolet radiation (UVB) from the sun improves psoriasis and induces vitamin D₃ synthesis. Objective The aim of the study was to investigate the effect of climate therapy on vitamin D₃ synthesis, blood glucose, lipids and vitamin B12 in psoriasis patients. Methods Twenty Caucasian patients (6 women and 14 men; mean age, 47.2 years; range, 24–65) with moderate to severe psoriasis [mean Psoriasis Area and Severity Index (PASI) score 9.8; range, 3.8–18.8] received climate therapy at the Gran Canarias for 3 weeks. Blood samples were drawn before and after 15 days of sun exposure. In addition, the patients’ individual skin UV doses based on UV measurements were estimated. Results Sun exposure for 15 days lead to a 72.8% (± 18.0 SD) reduction in the PASI score in psoriasis patients. Although no direct correlation was observed between PASI score improvement and UVB dose, the sun exposure improved the vitamin D, lipid and carbohydrate status of the patients. The serum concentrations of 25‐hydroxyvitamin D [25(OH)D] increased from 57.2 ± 14.9 nmol/L before therapy to 104.5 ± 15.8 nmol/L (P < 0.0001) after 15 days of sun exposure; the serum levels of 1,25‐dihydroxyvitamin D [1,25(OH)₂D] increased from 146.5 ± 42.0 to 182.7 ± 59.1 pmol/L (P = 0.01); the ratio of low‐density lipoprotein cholesterol and high‐density lipoprotein cholesterol decreased from 2.4 to 1.9 (P < 0.001); and the haemoglobin A₁c (HbA₁c) levels decreased from 5.6 ± 1.7% to 5.1 ± 0.3% (P < 0.0001). Conclusion Climate therapy with sun exposure had a positive effect on psoriasis, vitamin D production, lipid and carbohydrate status.