Brief clinical report: syndrome of telecanthus, hypertelorism, strabismus, and pes cavus in father and son

We report on a father and son who have telecanthus, hypertelorism, strabismus, and pes cavus. In addition, the son has hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of fingers bilaterally, a small tissue mass on the tip of his nose, and radiographic findings including flared metaphyses of long bones and osteopenia.     

黄花远志根中两个新■酮化合物的结构鉴定

从黄花远志（ＰｏｌｙｇａｌａａｒｉｌａｔａＢｕｃｈＨａｍ．）根中分离得到两个新的酮化合物，根据理化性质和光谱（ＵＶ，ＩＲ，ＭＳ，１ＨＮＭＲ，ＤＩＦＮＯＥ和１３ＣＮＭＲ）分析，分别鉴定为１，３二羟基２甲氧基酮（Ｉ）和７羟基１甲氧基２，３亚甲二氧基酮（Ｉ）。药理试验表明Ｉ，Ｉ均具有抑制醛糖酶的作用。     

Regulation of streptokinase-human plasmin complex by the plasma proteinase inhibitors alpha 2-antiplasmin and alpha 2-macroglobulin is species specific and temperature dependent

Streptokinase-plasmin complex (SkPl) was prepared with human plasminogen. Regulation of SkPl and plasmin by the plasma proteinase inhibitors, alpha 2-antiplasmin (alpha 2AP) and alpha 2-macroglobulin (alpha 2M), was studied as a function of temperature in plasminogen- depleted human plasma, mouse plasma, and solutions of purified proteins. The reaction of plasmin with proteinase inhibitors in human plasma was complete. alpha 2AP was the predominant inhibitor. The fraction of alpha 2M-plasmin recovered was not affected significantly by incubation temperature. In contrast, the reaction of SkPl with human proteinase inhibitors was markedly temperature dependent. The apparent second-order rate constant for the reaction of SkPl with purified alpha 2AP at 37 degrees C (1.5 x 10(2) mol/L-1 s-1) was greater than 150-fold higher than the constant derived at 4 degrees C. In human plasma and in solutions containing mixtures of purified human proteins, alpha 2AP was the principal inhibitor of SkPl. Elevating the temperature enhanced the reaction of SkPl with alpha 2AP and alpha 2M comparably. Equivalent results were obtained when incubations were performed in platelet-rich plasma (PRP) or whole blood. In murine plasma, SkPl reacted readily with the proteinase inhibitors. The principal inhibitor of SkPl was alpha 2M. Maximum reaction between SkPl and murine alpha 2M was observed at 37 degrees C; however, significant reaction also occurred at 4 degrees C. alpha 2 AP was the predominant inhibitor of plasmin in mouse plasma. Reaction of alpha 2AP with SkPl in murine plasma was significant only after the alpha 2M was inactivated with methylamine. These results were not affected by platelets or whole blood cells. We conclude that the thrombolytic efficacy of streptokinase reflects not only the nature of the plasminogen activator complex but also the function of the proteinase inhibitors.     

Anomalous connection between the sinus node artery and the A-V node artery

Anomalous connection between the sinus node artery and A-V node artery is an extremely rare coronary variant. Angiographic and clinical data from an adult with this finding are reported. Coronary embryogenesis and normal nodal arterial blood supply are reviewed. © 1993 Wiley-Liss, Inc.     

Parenteral magnesium sulfate fails to control electroshock and pentylenetetrazol seizures in mice

Magnesium sulfate has been used as an anticonvulsant in the treatment of eclampsia, but efficacy of magnesium in other types of seizure disorders is poorly documented. We examined the effects of magnesium sulfate (MgSO4) on seizures produced in mice by maximal electroshock (MES) and pentylenetetrazol (PTZ), MgSO4 injection (6.7 mEq/kg i.p.) caused weakness in all animals. With suprathreshold electroshock, 10/10 controls and 11/12 treated animals had seizures with tonic hind limb extension (P = NS). Electroshock threshold was unaltered by magnesium treatment (n = 48; P = 0.47). PTZ induced clonic seizures in 12/12 controls and 5/14 treated animals (P less than 0.05). This difference was likely due to muscular weakness because frequency of EEG spikes was the same in PTZ and PTZ + MgSO4 groups. Mean serum magnesium levels were 2.3 +/- 0.3 mEq/l in animals not given MgSO4; 10.9 +/- 1.4 mEq/l and 12.8 +/- 2.2 mEq/l in treated animals with and without seizures (P = NS). We conclude that magnesium sulfate had no significant anticonvulsant activity in mouse MES and PTZ models for epilepsy. The relevance of these findings to the possible efficacy of magnesium sulfate in eclamptic seizures and other types of epilepsy remains to be determined.     

Oxidative DNA base damage and its repair in kidneys and livers of nickel(II)-treated male F344 rats

DNA base damage was assayed using gas chromatography/ mass spectrometry with selected ion monitoring (GC/MS-SIM) in renal and hepatic chromatin of male F344 rats up to 14 days after a single i.p. injection of 90 micromol Ni(II) acetate/kg body wt. Ten different damaged bases were quantified. No damage was found in either organ 12 h after Ni(II) treatment. The damage became significant only from day 1, with magnitude and persistence depending on the organ and base. In livers, levels of five DNA base products were significantly elevated over those in control rats. They were: 8-oxoguanine (by 46% at day 1 postinjection); 2,6-diamino-4-hydroxy-5-formamidopyrimidine (by 107% at day 1); 5-(hydroxymethyl)uracil (by 94% at day 1); 5,6-dihydroxyuracil (by 128% at day 1); and 5-hydroxyhydantoin (by 39% in terms of the overall adjusted means for days 1-14 post-injection). The elevation was highest at day 1 post-injection followed by a decrease at later days, except for 5-hydroxyhydantoin. In kidneys, the levels of only three damaged bases, 8-oxoguanine, 5-hydroxyhydantoin and 5,6-dihydroxyuracil were increased significantly (by 31, 73 and 60%, respectively) and one base, 8-oxoadenine, was increased by 26%, just below significance, all in terms of overall adjusted means for days 1-14 post-injection. Hence, unlike those in the liver, the renal increases persisted for 14 days. The results reveal a tissue specific response to Ni(II)-mediated oxidative DNA base damage with apparently faster DNA repair in liver than in kidney, the main target of Ni(II) carcinogenicity.      

酪-D-丙-甘-苯丙-D-亮(DADL)五肽的固相合成及对免疫功能的影响

用固相多肽合成法合成了脑啡肽衍生物DADL,一种δ受体选择性激动剂。实验观察发现DADL能直接促进小鼠脾淋巴细胞增殖,并有一定浓度依赖关系,与ConA和LPS无明显协同效应,此外DADL(l.0mg·kg^-1X6d)在体内能促进TNF-α的产生。体外高浓度时(10^-6～5Xl0^-6mol·L^-1)能促成LPS诱导的TNF-a的表达。上述结果表明,DADL与脑啡肽类似,有一定免疫调节作用。     

Defective activation of mitogen-activated protein kinase after allogeneic bone marrow transplantation

Allogeneic bone marrow transplant (BMT) recipients have increased susceptibility to infections for prolonged periods after phenotypic reconstitution of donor cells. This immunodeficiency status is characterized by multiple T-cell functional abnormalities. This study was designed to investigate several signaling pathways involved in T- cell activation during this period of immune deficiency. In initial experiments using equal numbers of CD3+ cells or highly purified T-cell subpopulations obtained from normal controls and BMT recipients, we confirmed that abnormal T-cell proliferation after CD3 cross-linking, phytohemagglutinin stimulation, or phorbol myristate acetate (PMA) stimulation of peripheral blood mononuclear cells from BMT recipients was due to a qualitative T-cell deficiency rather than to low numbers of circulating T cells. We next investigated the ability of the T-cell receptor/CD3 complex to transduce signals via receptor-associated protein tyrosine kinases. In all BMT recipients, CD3 cross-linking induced protein tyrosine phosphorylation of several proteins in a similar fashion to that seen in controls, including phosphorylation of a 21-kD protein that represents the zeta subunit of the receptor itself. Further investigation showed that CD3 cross-linking and PMA stimulation did not increase 42-44-kD mitogen-activated protein kinase (MAPK) activity. The failure of MAPK activation in BMT recipients occurred despite tyrosine phosphorylation of the 42-44-kD proteins, which, in normal controls, parallels enzyme activation. Our results indicate that T-cell immunodeficiency in BMT recipients is associated with a selective failure of MAPK activation, possibly related to abnormal posttranslational positive regulation of this enzyme.     

Aseptic necrosis of the femoral head associated with pregnancy; a case report

A documented case of beginning aseptic necrosis of the femoral head associated with pregnancy together with a review of the literature about this rare complication of pregnancy is presented. The patient complained of increasing pain in the right hip and limitation of movement of the affected joint. After delivery, the diagnosis of beginning avascular necrosis of the right femoral head was confirmed on X-ray, technetium-99 bone scan and CT-scan of the hips. Three weeks after delivery the patient was treated with drilling of the femoral head. Recovery was complete.