Transcranial cortical stimulation in syringomyelia: Correlation with disability?

Central motor conduction times were studied using transcranial magnetic stimulation in 17 patients with syringomyelia. Central motor conduction time (lower-limb pathway) was prolonged or responses were absent in 44% of stimulations. When results were compared with clinical findings and magnetic resonance tomography, only a weak correlation was found. Transcranial magnetic stimulation is thus of limited value for diagnosing and monitoring the course of syringomyelia. © 1993 John Wiley & Soncs, Inc.     

Bilateral oblique facial cleft--tissue expansion with primary reconstruction

The oblique facial cleft may present as a cutaneous and/or an osseous cleft, with or without a cleft lip, and with or without a cleft palate. This particular case was born with complete bilateral cutaneous-osseous oblique facial clefts which extended from the oral cavity to the eye sockets with anophthalmia on the right side. The first surgical intervention included a midline nasal skeleton alignment and bilateral cleft lip and alveolus reconstruction. Urinary Foley catheters were used as facial tissue expanders and inserted adjacent to the oblique facial clefts. The second surgical procedure consisted of a partial pyramidal Le Fort II osteotomy for an inferiorly displaced nasal maxillary skeleton and a rotation and advancement of the cheek as a flap for reconstruction of the palpebral cleft and inner canthus.     

Fibrinogen Kiel: a congenital dysfibrinogenaemia with (A alpha-16 Arg----His) substitution characterized by HPLC without prior isolation of fibrinogen.

A congenital fibrinogen variant in a German family is described which has been identified as a substitution of His in position 16 of the A alpha-chain for Arg, manifested over three generations in heterozygous form. The characterization is based on the reaction of the variant fibrinogen with thrombin and reptilase, on the HPLC-chromatographic properties and the amino acid composition of the abnormal fibrinopeptide A. Clinical observations in the affected family members (neither haemorrhagic nor thrombophilic tendencies), the results of routine coagulation tests (normal global clotting tests, prolonged thrombin and thrombin-coagulase time, decreased fibrinogen concentration in functional as opposed to immunological tests), and the autosomal co-dominant modus of inheritance of the fibrinogen variant are all in complete agreement with other reports in the literature concerning the same amino acid exchange. The results of our experiments with fibrinogen Kiel allow no definite conclusion regarding the question of whether it consists of pure homodimers or as of a mixture of homo- and heterodimers.     

Editorial

Ohne Zusammenfassung

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Editorial

     

Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia

A brother and sister from consecutive pregnancies had rigid and tightly adherent skin in association with generalized contractures, unusual facies, pulmonary hypoplasia, an abnormal placenta, and a short umbilical cord. Both died shortly after birth. Pathologic examination of the skin by light and electron microscopy showed structural abnormalities of the epidermis, dermis, and subcutaneous fat. An abnormal pattern of keratin proteins was determined biochemically using extracted epidermal proteins. Autopsy showed a normal spinal cord and muscle histology. It is postulated that the defective skin severely restricted movement and secondarily led to the other abnormalities. Familial occurrence is most consistent with autosomal recessive transmission. These patients and the primary skin defect are discussed within the framework of the Fetal Akinesia or Hypokinesia Deformation Sequence.     

Coarctation of the aorta: MR imaging

Thirteen patients, aged 3-31 years, with coarctation of the thoracic aorta were examined by magnetic resonance (MR) imaging (total of 14 studies). Eight studies were performed preoperatively and six postoperatively. Catheterization data were available on 12 patients for verification of MR imaging findings. Electrocardiographically gated sagittal and left anterior oblique images best depicted the coarctations; however, involvement of arch vessels was best evaluated on transaxial images. MR imaging readily identified all coarctations but one, their site and extent, and involvement of the arch vessels. In addition, MR images depicted poststenotic dilatation and dilated collateral vessels. In patients studied postoperatively, restenosis could be evaluated, and complications such as postoperative aneurysm and perianastomotic hematoma were identified. MR imaging provides excellent anatomic detail of coarctation of the aorta, potentially obviating the need for angiography.     

N- and O-glycosylation muteins of recombinant human erythropoietin secreted from BHK-21 cells

Single-site glycomuteins of recombinant human erythropoietin (rhuEpo) were constructed and transiently and stably expressed in BHK-21 cells. The transient expression levels varied among muteins, being highest for mutein rhuEpoGln24 followed by wild-type rhuEpo (rhuEpowt). All other glycomuteins, including rhuEpoGln38, rhuEpoGln83, rhuEpoThr126, and rhuEpoGly126, were secreted at lower levels than rhuEpowt. Muteins expressed in stable cell lines showed similar differences in expression levels. Also each mutein could be affinity-purified from culture supernatants, and was biologically active in vivo. Based on secretion rates from BHK-21 cells, the most potent erythropoietin was rhuEpoGln24. This mutein is also considered to have biologic activities that are superior to rhuEpowt.     

米非司酮终止早孕绒毛组织中一氧化氮合成酶活性及血清雌二醇、孕酮的测定

米非司酮终止早孕绒毛组织中一氧化氮合成酶活性及血清雌二醇、孕酮的测定杨晓葵李明冯淑芝杨菁管楚玉近年来的研究发现，一氧化氮（Ｎｉ－ｔｒｉｃｏｘｉｄｅ，ＮＯ）是一种具有多种生物学潜能的局部调节因子，参与调节胚胎的发育和生殖激素的合成与释放。为了探讨米非司...