Body composition in Egyptian Turner syndrome girls

OBJECTIVE:

This cross-sectional study was undertaken to construct the new body fat % curve and provide body composition reference data for adolescent girls with Turner syndrome (TS). They diagnosed cytogenetically by blood karyotyping and not treated with growth hormone (GH).

MATERIALS AND METHODS:

The study included 70 TS girls from age 13 years to age 17 years. Body composition was measured by bioelectrical impedance. Smoothed centile charts were derived by using the least mean square (LMS) method.

RESULTS:

The new body fat curves reflect the increase of body fat mass (FM) from age 13 years to age 17 years. Body FM % of Egyptian TS girls was lower when compared with age-matched American untreated TS girls.

CONCLUSION:

This study presents the new body fat curves and reference values of body composition for untreated Egyptian TS adolescent girls. The present charts can be used for direct assessment of body FM % for Egyptian TS girls and evaluation for cases on GH treatment or other growth promoting therapy.     

Turner syndrome female with a small ring X chromosome lacking the XIST, an unexpectedly mild phenotype and an atypical association with alopecia universalis

Rearranged X chromosome in Turner syndrome (TS) are generally well tolerated but in cases of ring X chromosomes and of X/autosome translocations the incidence of mental retardation and other congenital abnormalities can be significantly higher. These abnormal phenotypes can be ascribed to failed or partial X inactivation. Here, we report a 10-year-old female who was referred for a cytogenetic analysis because she developed an alopecia universalis. The patient, of normal intelligence, had been found to have traits of TS, especially short stature. A first cytogenetic analysis showed a no mosaic 45,X karyotype. Since, the risk of developing gonadoblastoma in TS patients with mosaicism for a Y derivative chromosome and because association of alopecia universalis and TS is uncommon, fluorescence in situ hybridization (FISH) was performed to search for a second cell population. Our patient was found to have a mosaic 45,X/46,X,+r. FISH analysis using sex chromosome probes permitted us to identify the very small marker as a ring X chromosome, detected in 90% of cells. The ring appeared to be formed almost totally of alphoid sequences with breakpoints in the juxtacentromeric region. The r(X) does not include the XIST locus and may, therefore, not be subject to X-inactivation. Unexpectedly mild phenotype in our patient and its association with alopecia universalis will be discussed.     

食管鳞癌组织中CDC2、CLDN5蛋白表达及其临床病理意义的研究

目的探讨CDC2及CLDN5在食管鳞癌中表达及其临床病理特征的关系。方法应用免疫组化Elivision法检测90例食管鳞癌组织、28例正常食管黏膜组织及16例重度不典型增生组织中CDC2和CLDN5的蛋白表达情况。结果在食管鳞癌和正常食管黏膜组织中CDC2和CI。DN5的阳性表达率分别为88．89％（80／90）、85．56％（77／90）和48．86％（12／28）、25．00％（7／28）,两者差异有统计学意义（P〈O．05）。CDC2蛋白表达在低分化食管鳞癌中明显高于高分化食管鳞癌;临床分期Ⅲ＋Ⅳ期组的CDC2蛋白的表达显著高于I期、Ⅱ期组（P〈O．05）。CDC2和CLDN5在食管鳞癌中表达呈正相关（r=0．537,P〈o．05）。结论CDC2和CLDN5在食管鳞癌的发生、发展过程中可能发挥重要作用,可能作为食管癌临床早期诊断的重要指标。     

Cognitive and behavioral characteristics of turner syndrome: exploring a role for ovarian hormones in female sexual differentiation

To better understand factors contributing to behavioral development, we studied patients with Turner syndrome (TS), a disorder typically marked by prenatal onset of ovarian dysfunction. We compared girls and women (ages 12 and up) with TS (n = 21) to matched controls (n = 21) in cognitive and motor skills, as well as sex-typed personality characteristics and activity preferences. Measures were categorized (based on prior studies) as showing an average male advantage (male-superior measures), female advantage (female-superior measures), or no sex difference (sex-neutral measures). It was hypothesized that, if gonadal function contributes to behavioral development, effects of this deficiency would be more prominent on sexually differentiated than sex-neutral measures and thus that patient-control differences would be most marked for measures that show sex differences. Our findings indicated that TS patients and controls differed more on cognitive and motor domains that show sex differences than on sex-neutral domains. Patients also had more "undifferentiated" personalities and showed reduced sex-typed interests and activities. Differing experiences, as indexed by interests and activities, did not explain the observed cognitive and motor differences. These results are consistent with a role for ovarian hormones acting on the brain to influence cognitive and behavioral development, although they do not rule out other possible interpretations.     

A Turner patient with a 45,X,t(1;2) (q41;p11.2) karyotype

The most common chromosomal anomaly is 45,X in the Turner syndrome. In addition to this, anomaly, mosaicism such as structural 46,X,i(Xq), 46,X,del(Xp), 46,X,r(X), 46,X,t(X;Y) and numerical 46XO/46,XX/47XXX are seen rather frequently. An infant with the Turner syndrome was found to have a karyotype 45X,t(1;2) (q41;p16) using high resolution banding. Based on our knowledge, we present the first case of 45X,t(1;2) (q41;p11.2), a karyotype in Turner's syndrome in the literature.     

Multiorgan autoimmunity in a Turner syndrome patient with partial monosomy 2q and trisomy 10p

Turner syndrome is a condition caused by numeric and structural abnormalities of the X chromosome, and is characterized by a series of clinical features, the most common being short stature and gonadal dysgenesis. An increased frequency of autoimmune diseases as well as an elevated incidence of autoantibodies has been observed in Turner patients.     

William Borrer's lichens in the Supplement to the English Botany 1829–1866

Fifty-seven lichens were documented in Hooker's Supplement to the English Botany , published in five volumes from 1829 to 1866, when British lichenology was, until 1851, largely in a state of stagnation. These included 26 new lichens described by William Borrer, one of which, Verrucaria Hookeri (now Dacampia hookeri ), has proved to be a lichenicolous lichen. The merit of his work is discussed. One new species, namely Strigula Babingtonii , was described by the Reverend Miles Joseph Berkeley, but this is now regarded as a non-lichenized ascomycete fungus. An attempt was made to trace the whereabouts of all the type specimens, and only one could not be located. The current taxonomic status of the new species was investigated by the critical study of original references. No names require correction, but the authorities for Bacidia incompta (Borrer) Anzi and Verrucaria fuscella (Turner) Winch & Thornhill need emendation. The copyright dates of the plates are given, which should be accepted as those of publication.  © 2007 The Linnean Society of London, Botanical Journal of the Linnean Society , 154 , 381–392.