Deletion (2) (q37)

We report on a 5-month-old girl with widely spaced nipples, redundant nuchal skin, coarctation of the aorta, anal atresia with distal fistula, postnatal growth retardation, hypotonia, and sparse scalp hair. Initial clinical assessment suggested the diagnosis of Ullrich-Turner syndrome. Chromosome analysis showed a 46,XX,del(2)(q37) karyotype in peripheral lymphocytes. We compare her findings to those of other reported patients with terminal deletions of 2q. © 1994 Wiley-Liss, Inc.     

可溶性gp130对白血病抑制因子和制瘤素的拮抗作用

在研究可溶性ｇｐ１３０（ｓｇｐ１３０）分子对ＩＬ ６／ＩＬ ６Ｒ作用的基础上,继续研究了ｓｇｐ１３０对ＩＬ ６家族细胞因子白血病抑制因子（ＬＩＦ）和制瘤素（ＯＭ）的生物学作用。结果显示,ｓｇｐ１３０对ＬＩＦ和ＯＭ刺激的人多发性骨髓瘤（ＭＭ）细胞株ＸＧ４ ＣＮＴＦ的增殖有抑制作用。此外,ｓｇｐ１３０对ＬＩＦ和ＯＭ刺激表达ＬＩＦ受体的新鲜ＭＭ细胞的增殖也有抑制作用,提示ｓｇｐ１３０也可为ＬＩＦ和ＯＭ的拮抗剂。     

Theta-behaviour of poly(p-tert-butylstyrene)-block-poly(dimethylsiloxane)-block-poly(p-tert-butylstyrene)

The theta-behaviour of poly(p-tert-butylstyrene)-block-poly(dimethylsiloxane)-block-poly(p-tert-butylstyrene) ABA type triblock copolymers containing ca. 28% by weight tert-butylstyrene was studied in the selective solvents 1-nitropropane and 2-butanone using the phase separation method. The theta-temperatures in these solvents were found to be 157°C and 31°C, respectively. The intrinsic viscosities of the copolymers in 2-butanone (MEK) were obtained at different temperatures. The Mark-Houwink-Sakurada exponent α in MEK at 31°C is greater than 0,5, suggesting that the theta-behaviour of block copolymers is different from that of the homopolymers due to the presence of repulsive interactions between incompatible blocks.     

窄手蚋的重新描述（双翅目：蚋科）

窄手蚋 （Simulium （Simulium） omorii）是Takahasi（1942）发表的新种,当时放在短蚋属（Omiadag）,该蚋标本是采自我国黑龙江省.Takahasi 仅描述了两性成虫和蛹,缺幼虫,况前者也不甚详细 1983年,虞以新和安继尧在我国黑龙江省饶河县珍宝岛地区,采到窄手蚋的两性成虫、幼虫和蛹,描述于后供同道者参考.窄手蚋与Rubzov（1956）描述的S. （S.） tenuimanus Enderlein, 1920很近似,不同的是：1. 足色：雌虫,窄手蚋前、中足股节黑色,后足股节基段1/5棕黄色.tenuimanus蚋,前、中、后足股节巧克力棕黑色,仅基部有点黄色.雄虫,窄手蚋后足转节、股节基端部、胫节基端部和中足基节1/2棕黄色,而tenuimanus 除前足基节和后足胫节基部褐色外,余部黑色.2. 窄手蚋中骨圆形或弹头形,前端圆形,后端凹入呈八字形 tenuimanu 中骨箭形,末端尖.标本保存于军事医学科学院医学昆虫标本馆.     

Degradation of poly(lactide-co-glycolide) (PLGA) and poly(L-lactide) (PLLA) by electron beam radiation

This paper seeks to examine the effects of electron beam (e-beam) radiation on biodegradable polymers (PLGA and PLLA), and to understand their radiation-induced degradation mechanisms. PLGA (80:20) and PLLA polymer films were e-beam irradiated at doses from 2.5 to 50 Mrad and the degradation of these films were studied by measuring the changes in their molecular weights, FTIR spectra, thermal and morphological properties. The dominant effect of e-beam irradiation on both PLGA and PLLA is chain scission. Chain scission occurs first through scission of the polymer main chain, followed by hydrogen abstraction. Chain scission, though responsible for the reduction in the average molecular weight, Tc, Tg and Tm of both polymers, encourages crystallization in PLGA. PLLA also undergoes chain scission upon irradiation but to a lesser degree compared to PLGA. The higher crystallinity of PLLA is the key factor in its greater stability to e-beam radiation compared to PLGA. A linear relationship is also established between the decrease in molecular weight with respect to radiation dose.     

(E)TUDE APPLIQ(E)E DE ENC(E)PHALE ATLAS DANS MALADES AVEC INFARCTION C(E)R(E)BRALE

目的:探讨脑电地形图在脑梗死中的应用价值。方法:在43例脑梗死患者中,进行了脑电地形图和脑CT检查,并进行了对比。结果:脑电地形图和脑CT的改变是一致的,但脑电地形图改变早于脑CT。结论:脑电地形图在脑梗死患者中有重要的应用价值。     

(E)TUDE APPLIQU(E) DE ENC(E)PHAL ATLAS DANS MALADIES PSYCHI(Q)UE

目的:探讨脑电地形图在精神性疾病中的应用价值。方法:106例精神性疾病患者进行了脑电地形图检查,并进行了分析。同时,进行了脑CT检查,并进行了对比。结果:精神性疾患者的脑电地形图有明显的改变。结论:脑电地形图在精神性疾病中有重要应用价值。     

肠系膜上动脉闭塞性休克过程中一氧化氮的抗肺损伤用

本实验采用兔肠系膜上动脉闭塞（ＳＭＡＯ）性休ｋｅ模型，测定了休克前后人．出肺血一氧化氮（ＮＯ）的含量，动态观察了ＮＯ合成抑制剂ＬＮＮＡ对休克时平均动脉血（ＭＡＰ）和肺动脉压（ＰＭＰ）及对生存时间的影响，并测定了人、出肺血脂质过氧化代谢产物丙二醛（ＭＤＡ）的含量改变。结果发现，ＳＭＡＯ休克的出肺血ＮＯ显著低下人肺血（Ｐ＜０．００１），而休克后人、出肺血ＮＯ无明显差异，且与休克前相比也无明显差异。注入Ｌ－ＮＮＡ后显著增加了休克后的ＰＭＰ，缩短了存活时间。并使人、出肺皿ＭＤＡ含量明显增加，结果提示：在兔ＳＭＡＯ休ｋｅ中内源性ＮＯ具有重要的抗肺动脉压增高和抗肺损伤的作用。     

Alpha-thalassaemia (Hb-Bart's) in Rajasthan (India)

A total of 1,647 cord blood samples (618 of scheduled tribes, 487 of scheduled castes and 542 of general castes) of newborns from the Banswara, Bhilwara, Chittorgarh, Dungarpur, Sirohi and Udaipur districts of the Aravali hilly region of Rajasthan were investigated electrophoretically for evidence of Hb-Bart's (alpha-thalassaemia). Hb-Bart's was encountered in 31 (1.88%) neonates constituting 1.8 to 12.6% of their total haemoglobin. Of these, 24 (1.46%) were of alpha-thalassaemia 1 and 7 (0.42%) of alpha-thalassaemia 2. The incidence of alpha-thalassaemia genes varied from 3.07% in the scheduled tribes, 1.43% in the scheduled castes to 0.77% in the general castes populations giving an overall incidence of 1.88%. Except Hb-Bart's allele, no other mutant haemoglobins were observed.     

Pendant-type poly(4-vinylpyridine)-Cr(III) and -Co(III) complexes

Pendant-type poly(4-vinylpyridine) (PVP)-Cr(III) complexes ( 1 ) and -Co(III) complexes ( 2 ) with various degrees of coordination (x) were prepared, and the structures and properties of the polymer complexes are discussed. The magnetic susceptibility of 1 showed that 1 is paramagnetic and that the Cr(III) ions do not interact with each other, although they were coordinated along the PVP chain at high concentration. The far-infrared absorption bands, assigned to the stretching of the coordinative bond between Co and the pyridine-unit of PVP shifted to lower wave numbers in 2 , as compared with the corresponding pyridine complex 4 . It is thus considered that the coordinative bond in 2 is weaker than in the monomeric pyridine complex 4 , owing to the steric hindrance of PVP; the Co(III) chelates coordinated at high concentration. This consideration is supported by the ESR parameters of 1 . The dissociation temperature of the coordinative bond between Co and PVP increased with x. It is presumed that the PVP complex 2 has a rigid structure such that more energy is required to break the coordinative bond.     

Deletion (9) (p13.1 p21.1)

We report on a 22‐month‐old girl with minor facial anomalies, global developmental delay, growth retardation, seizures, and leukoencephalopathy. Initial clinical assessment suggested the diagnosis of Williams syndrome. Results of fluorescence in situ hybridization testing for elastin were normal. However, chromosome analysis showed a 46,XX,del(9)(p13.1p21.1) karyotype in peripheral lymphocytes. Parental chromosomes were normal, indicating a de novo deletion. This patient's manifestations are compared with those of two other cases with overlapping deletions of the proximal short arm of chromosome 9. Am. J. Med. Genet. 91:113–115, 2000. © 2000 Wiley‐Liss, Inc.     

Stereocomplex formation in ABA triblock copolymers of poly(lactide) (A) and poly(ethylene glycol) (B)

Two series of triblock copolymers of poly(ethylene glycol) (PEG, number-average molecular weight M _n = 6000) and poly(L -lactide) (PLLA) or poly(D -lactide) (PDLA) were prepared by ring-opening polymerization of lactide initiated by PEG end groups using stannous octoate as a catalyst, either in refluxing toluene or in the melt at 175°C. The weight percentage of PLA in the polymers varied between 15 and 75 wt.-%. Blends of polymers containing blocks of opposite chirality were prepared by co-precipitation from homogeneous solutions. The melting temperatures of the crystalline PEG and PLA phases strongly depended on the composition of the polymers. The melting temperature of the PLA phase in the blends was approximately 40°C higher than that of the single block copolymers. Stereocomplex formation between blocks of enantiomeric poly(lactides) in PEG/PLA block copolymers was established for the first time. Water uptake of polymeric films prepared by solution casting was solely determined by the PEG content of the film.     

Ro (SSA) and La (SSB) antibodies

Summary This review traces the historical development of information regarding the Ro (SSA) and La (SSB) autoantibody systems over the past twenty years. Clinical and serologic findings are integrated with fundamental observations in this rapidly expanding area of research. Retrospective analysis of the physicochemical properties of the antigens and the cellular staining characteristics of antibodies to these antigens suggest that SjD and Ro and SSA, as well as SjT and La, SSB, and Ha antigens probably are similar macromolecules. The immunologic identity of Ro with SSA and La with SSB and Ha has been established previously. Antibodies to these antigens are directed against macromolecules containing small RNA nucleotides.Antibodies to the Ro (SSA)-La(SSB) antigen system commonly are detected in the sera of patients with systemic lupus erythematosus and Sjögren's syndrome and appear to be of diagnostic significance. These antibodies occur in up to one quarter of patients with systemic lupus erythematosus (SLE) without the sicca complex, but also in patients with ANA negative SLE who have a prominent photosensitive dermatitis and may have serious renal disease, subacute cutaneous SLE, and in infants and mothers of infants with neonatal SLE. Thus, these antibody systems form a serologic link between many unusual connective tissue diseases and systemic SLE.Antibodies to Ro (SSA)-La(SSB) are associated not only with Sjögren's syndrome occurring alone, but also with Sjögren's syndrome occurring in the setting of other connective tissue diseases including SLE and rheumatoid arthritis. Anemia, leukopenia, and thrombocytopenia, as well as hyperglobulinemia and the presence of rheumatoid factor, cryoglobulins, and antibodies to nuclear antigens are associated significantly with Ro positivity in Sjögren's syndrome patients. There is a striking association of vasculitis in the clinical setting of Sjögren's syndrome with the presence of antibodies to Ro (SSA). In addition to peripheral nerve involvement, unusual central nervous system manifestations as well as myositis occur in these Ro(SSA) positive Sjögren's syndrome patients. Deposition of immunoglobulin and complement within vessel walls of kidney and muscle from Ro positive patients with Sjögren's syndrome suggests a possible role for immune complex deposition in the pathogenesis of the vasculitis.Supported by National Institutes of Health grant 5ROI-AM-25650-03 and Research Career Development Award 5-KO-4-AM-00524-02     

Diplostomum phoxini (Faust, 1918) (Trematoda)

Zusammenfassung Metacercarien von Diplostomum phoxini (Faust, 1918) wurden in Elritzen (Phoxinus phoxinus) eines süddeutschen Mittelgebirgsflusses gefunden. Als erster Zwischenwirt in diesem Biotop wurde Lymnaea peregra ovata ermittelt. Mit Metacercarien aus experimentell infestierten Elritzen gelang die Infestation von Jungenten (Anas platyrhynchos). Das Miracidium wird dargestellt. Ein bisher unbekanntes transitorisches pathologisches Verhalten experimentell infestierter Elritzen wird beschrieben.

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Diplostomum phoxini (Faust, 1918) (Trematoda)Morphological features of the miracidium and observations on other stages in the life cyle

Summary Metacercariae of Diplostomum phoxini (Faust, 1918) were found in minnows (Phoxinus phoxinus) living in a river of the South German highlands. Lymnaea peregra ovata proved to be the first intermediate host, and ducklings (Anas platyrhynchos) were successfully infected with metacercariae from minnows with experimentally induced infestations. The morphology of the miracidium is described. The transitory pathologic behaviour of minnows with experimental infestations has been observed for the first time.

     

Deletion (9) (p13.1 p21.1)

We report on a 22-month-old girl with minor facial anomalies, global developmental delay, growth retardation, seizures, and leukoencephalopathy. Initial clinical assessment suggested the diagnosis of Williams syndrome. Results of fluorescence in situ hybridization testing for elastin were normal. However, chromosome analysis showed a 46,XX,del(9)(p13.1p21.1) karyotype in peripheral lymphocytes. Parental chromosomes were normal, indicating a de novo deletion. This patient's manifestations are compared with those of two other cases with overlapping deletions of the proximal short arm of chromosome 9.     

Fra(2) (q13) and inv(9) (p11q12) in autism: causal relationship?

Twenty individuals with autism or related disorders underwent chromosome analysis and physical examinations with documentation of minor anomalies. Chromosome anomalies were identified in 3: 2 had the heritable folate sensitive fra(2) (q13) site and 1 had an inv(9) (p11q12). No heritable chromosome variants or anomalies were seen in 20 age and sex-matched control individuals. When patients with the fra(2) were excluded from analyses, there was no difference in the frequency of chromosome breaks and/or gaps between the study group and control group. The results of this study suggest that heritable folate sensitive fragile sites and other chromosome variants may be more commonly seen in individuals with autism or related disorders in childhood than in the general population.     

Strabismus (STB)/Vang-like (VANGL) gene family (Review)

Strabismus 1 (STB1/VANGL2) and Strabismus 2 (STB2/VANGL1), which have been cloned and characterized using bioinformatics and cDNA-PCR, are human homologues of Drosophila tissue polarity gene strabismus (stbm)/Van Gogh (Vang). STB1 and STB2 are tetra-membrane-spanning proteins with 73.1% total-amino-acid identity. Serine-rich domain and Strabismus-homology (STH1 and STH2) domains are conserved among human STB1, STB2, Xenopus Stbm, and Drosophila Stbm. STH2 domain with the C-terminal Ser/Thr-X-Val motif is implicated in binding with Dishevelled (DVL) proteins. STB1 gene is clustered with CASQ1 gene on human chromosome 1q21-q23, while STB2 gene is clustered with CASQ2 gene on human chromosome 1p13. STB1 and STB2 genes are located around cancer susceptibility loci or recombination hot spots in the human genome. STB1 is moderately expressed in K-562 (leukemia), G-361 (melanoma), and MKN7 (gastric cancer) cells. STB2 is highly expressed in MKN28, MKN74 (gastric cancer), BxPC-3, PSN-1, and Hs766T (pancreatic cancer) cells. On the other hand, STB1 and STB2 are significantly down-regulated in several cancer cell lines and primary tumors. Xenopus homologue of human STB1 and STB2 regulates negatively the WNT - beta-catenin signaling pathway. Loss-of-function mutations of genes encoding negative regulators of WNT - beta-catenin signaling pathway lead to carcinogenesis. Based on functional aspects and human chromosomal loci, STB1 gene and STB2 gene are predicted to be potent tumor suppressor gene candidates. STB1 and STB2 might be suitable targets for tissue engineering in the field of re-generative medicine and for chemoprevention and treatment in the field of clinical oncology.