Congenital infiltrating lipomatosis of the face with hemimegalencephaly.

Congenital infiltrating lipomatosis of the face (CILF) is a rare disorder, causing unilateral facial asymmetry characterized by enlargement of the cheek or chin. Hemimegalencephaly is a unique malformation characterized by enlargement of a cerebral hemisphere. The association of CILF and hemimegalencephaly has rarely been reported. We present a case of unilateral facial swelling in a 1.5-year-old boy in whom magnetic resonance imaging and computed tomography revealed CILF associated with unilateral megalencephaly.

Paraparesis following straining accompanied by spontaneous thoracolumbar spinal epidural hematoma: a case report.

Spontaneous spinal epidural hematoma (SSEH) is a rare disease that requires emergency surgical intervention because it can cause serious and permanent neurological damage. Its etiology is related to coagulopathy, vascular malformation, hypertension, neoplasms, infections and idiopathic causes. It is frequently observed in the cervicothoracic and thoracolumbar regions. Inadequate spinal vascularization of the thoracolumbar junction increases the risk of spinal infarcts in lesions in this region. Therefore, prompt and effective surgical intervention is critical in patients with a thoracolumbar SSEH. We conclude that prognosis would be better than it is if patients with complete neurological damage were to undergo spinal decompression within the first 36 hours, and patients with incomplete neurological damage were operated on in the first 48 hours. We report a 71-year-old female patient with a history of aspirin use who developed paraparesis accompanied by SSEH following straining, and emphasize the importance of early surgical treatment.

Ventral thoracic spinal cord herniation: a commonly misdiagnosed and treatable cause of myelopathy.

Idiopathic ventral spinal cord herniation is a rare cause of progressive myelopathy that demonstrates unique radiological features. We describe a case of thoracic spinal cord herniation through an anterior dural defect and discuss the characteristic findings on magnetic resonance imaging and computed tomographic myelography. A 36-year-old man presented to our clinic with progressive leg weakness and spasticity in both legs. Magnetic resonance imaging of the thoracic spinal canal demonstrated C-shaped anterior kinking of an atrophied spinal cord and enlarged dorsal subarachnoid space at the T5-T6 level. Computed tomographic myelography showed ventral herniation of the spinal cord and no evidence of an intradural spinal arachnoid cyst. Ventral spinal cord herniation is a commonly misdiagnosed entity. Knowledge of the characteristic imaging appearance of this treatable condition is important for proper diagnosis and treatment.

Rapid expression cloning of human immunoglobulin Fab fragments for the analysis of antigen specificity of B cell lymphomas and anti-idiotype lymphoma vaccination.

An expression system for rapid and standardized production of human recombinant immunoglobulin Fab fragments in E. coli was developed. Functional folding of the Fab fragments was accomplished by the dicistronic expression vector pFab.gammakappa containing specialized leader sequences to direct the immunoglobulin heavy and light chains to the periplasmic bacterial space. A C-terminal hexahistidine tag of the Fd chain facilitated metal affinity chromatography and purification to homogeneity as assessed by SDS PAGE and silver staining. Specific antigen recognition by a hybridoma-derived Fab fragment was indistinguishable from that of the corresponding monoclonal antibody. This protocol may be useful for analysis of the antigen specificity of human B cells and for convenient production of lymphoma-derived idiotype protein for vaccination strategies. To obtain unmodified immunoglobulin cDNA sequences from small human biopsies for insertion into pFab.gammakappa, oligo(dG)-tailed cDNA was amplified with an oligo(dC)- and nested mu or kappa constant region-specific primers. Using single sets of primers for each class of immunoglobulin transcripts, the products of this anchored PCR reflected the relative abundance of the starting cell population and permitted reliable identification of clonal, lymphoma-derived sequences for subsequent expression cloning.

The golden hamster aphrodisin gene. Structure, expression in parotid glands of female animals, and comparison with a similar murine gene.

The so-called lipocalins are a family of extracellular proteins that are known to typically fulfill tasks as transport proteins for small hydrophobic molecules. However, in the last decade, a large diversity has been described concerning their functions, for example as enzymes, immunomodulators, or proteins involved in coloration and pheromone action. Aphrodisin belongs to those lipocalins, which are of significant importance for the pheromonal stimulation of copulatory behavior in male hamsters. We recently succeeded in characterizing the corresponding cDNA and demonstrated the expression of the aphrodisin gene in the vagina, uterus, and Bartholin's glands of female hamsters. Here we report the structure of the aphrodisin gene and the functionality of its promoter region. We further compare the aphrodisin gene to the related gene for mouse odorant-binding protein 1a, indicating similar functions of their products. As a novelty, we show that the aphrodisin gene, in addition to the above-mentioned tissues, is also expressed in female hamster parotid glands. In contradiction to the results expected, we finally demonstrate that aphrodisin already occurs in vaginal discharge before the female animals reach fertility. These findings may lead to the identification of as yet unknown aphrodisin functions.