Biomedical subjects
Publications and source records attributed to A Bornemann.
Two siblings are reported with a unique association of nephrogenic diabetes insipidus, intracerebral calcifications, defective psychomotor development, dwarfism and peculiar facial appearance. The disorder is to be differentiated from similar disorders, notably the Cockayne syndrome.
We localized desmin at human neuromuscular junctions (NMJs) using specific anti-desmin monoclonal and polyclonal antibodies. It was highly concentrated in the postsynaptic domain. It was found in all the NMJs examined. Compared with the area of acetylcholine receptors identified by bound alpha-bungarotoxin, the strong desmin immunoreactivity occupied a slightly larger area and was localized slightly deeper in the muscle fiber, suggesting that desmin might be accumulated within the postsynaptic folds and possibly below the folds. This appears to be the first identification of a protein unrelated to cholinergic transmission accumulated at human NMJs.
The polyols sorbitol and inositol were determined in single freshly microdissected tubule segments of rat kidney. Twenty different structures were separated from six different kidney zones reaching from cortex to papillary tip. Picomol amounts of sorbitol and inositol were quantitated by use of an enzymatic bioluminescence procedure. Experimental conditions (700 mosmol/kg, 4 degrees C) were chosen to assure constant polyol concentrations over 3 h dissection period. Sorbitol exhibited a concentration gradient in the collecting duct system from the outer/inner medullary border (3.9 +/- 0.5 pmol/mm) to the papillary tip (78.8 +/- 6.9 pmol/mm). In the same region descending and ascending limbs of Henle's loop contained 1.5 +/- 0.5 to 5.3 +/- 1.6 pmol/mm and 2.5 +/- 0.8 to 8.35 +/- 1.5 pmol/mm, respectively. In contrast, all outer medullary and cortical structures had lower sorbitol concentrations. Inositol amounts increased continuously in the collecting duct from cortex (5.3 +/- 0.5 pmol/mm) to inner medulla (30.7 +/- 3.8 pmol/mm). This polyol was also found in thick ascending limb of Henle's loop (6.2 +/- 1.1 pmol/mm in cortex to 11.2 +/- 1.4 pmol/mm in outer medulla) and in proximal tubules (5.6 +/- 1.2 pmol/mm in S1 and 4.5 +/- 1.5 pmol/mm in S3). When related to cellular volume measured by planimetry, intracellular sorbitol concentration was calculated to be 51 mmol/l in papillary collecting duct and inositol 28 mmol/l in outer medullary thick ascending limb cells. These data confirm the role of sorbitol in the renal concentrating process in papilla. Inositol seems to have additional function in thick ascending limb of Henle's loop and the proximal tubule.
We report here on congenital sphenoorbital encephalocele which could not be disclosed by computed tomography including contrast medium application or by orbital sonography. Surgery and histological examination were necessary to establish correct the diagnosis.
This is a case report on a patient with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). This study documents, by CT scan, the progression of the disease for 7 years. The first CT scan was normal; all subsequent CT scans were pathological. In addition, one MRI study was done.
Owing to advances in morphological and biochemical techniques, the mitochondria-related myopathies and encephalomyopathies have emerged as a still rapidly growing group of primary and secondary metabolic disorders, which may extend from infancy to late adulthood. Impairment of the biochemically diversified mitochondria is reflected in an enormous number of deficiencies, often affecting several mitochondrial enzymes in the same patient; morphologically abnormal mitochondria are common and are thus not specific to individual mitochondrial enzyme deficiencies. Skeletal muscle biopsies have provided a wealth of data through histological and histochemical studies and from isolated mitochondria. As a similar abundance of biochemical and morphological findings has not been obtained from brain tissue in mitochondrial encephalomyopathies, investigation of these disorders is still in its infancy; interpretation of these conditions and their encephalopathic components has largely been based on comparison of data not derived from brain tissues. Therefore, it has been, and still is, largely the link between an encephalopathy and an associated mitochondrial myopathy that identifies the brain lesions as clinical and morphological expressions of a mitochondrial defect. As enzyme histochemical and electron microscopic investigations of mitochondrial encephalopathies have not yielded a comparable rich spectrum of morphological findings, it is conceivable that the spectrum of mitochondrial encephalopathies may be much larger than defined by the hitherto identified encephalomyopathies. This may be especially so when the myopathic component is of minor nosological significance.
We report on the prenatal diagnosis of bilateral fetal cataract in the 17th week of pregnancy as the first ultrasonographic sign of a Walker-Warburg syndrome in a familial case. No other anomalies could be detected by ultrasonographic examination at that time. Both the bilateral fetal cataract and specific abnormalities of a Walker-Warburg syndrome were confirmed after the termination of the pregnancy in the second trimester.
OBJECTIVE: Malignant B-cell lymphomas of the dura mater are very rare. A case of primary centroblastic/centrocytic lymphoma of the dura mimicking a bilateral convexity meningioma is presented. CLINICAL PRESENTATION: A 50-year-old woman was referred to our institution with a 6-month history of headache and two Jacksonian seizures. Computed tomography revealed a parafalcine and bilateral convexity lesion. Cerebral angiography and magnetic resonance imaging were performed prior to surgery. At surgery the tumor was removed subtotally. The patient was treated postoperatively by combined chemo- and radiotherapy. CONCLUSION: Laboratory studies and follow-up examinations revealed no evidence of systemic lymphoma nor of any immunocompromised state. According to the presented case combined surgery and chemoradiotherapy seems to be an effective treatment for this rare lesion.
OBJECTIVE: Based on 2 casuistics, the intraoperative qualities of a new, non-adhesive liquid embolic agent (Onyx, Micro Therapeutics. Inc., Irvine, CA, USA) are to be compared to those of n-butyl 2-cyanoacrylate (NBCA) with regard to the histopathological results after preoperative embolization of a cerebral arteriovenous malformation (AVM). PATIENTS AND METHODS: In a case example, the intraoperative quality of the nidus after embolization of a parieto-occipital AVM with Onyx--a new, non-adhesive liquid embolic agent--consisting of ethylene-vinyl alcohol copolymer (EVOH), dimethyl sulfoxide (DMSO) and tantalum, is described. In the second patient, embolization of a frontal high-flow AVM was performed with NBCA. Both patients underwent surgery with complete resection ofthe AVM. RESULTS: From a neurosurgical point of view, Onyx is suitable for preoperative embolization of AVMs, because the nidus intraoperatively remains elastic and formable and can be dissected from the surrounding brain tissue quite well by microsurgical technique. Inflammatory reactions can be found mainly in the lumina of the vessels. CONCLUSIONS: Onyx promises to be an embolic agent well suitable for subsequent neurosurgical resection. Further studies considering various intervals of time between embolization and resection as well as histopathological and electron microscopical examinations are necessary for evaluation of our first experience with this new embolization agent.
A case of extraventricular neurocytoma with spontaneous intratumoral hemorrhage is reported. A 47-year-old man presented with sudden left-sided hemiparesis. Magnetic resonance imaging revealed a right parietal subcortical mass with intratumoral hemorrhagic transformation and without contact to the ventricular system. After complete microsurgical removal, the tumor was histologically diagnosed as neurocytoma. Usually, the term "central neurocytoma" is restricted to neurocytic neoplasms arising within the cerebral ventricles. In the majority of the cases, these slow-growing, generally circumscribed lesions become symptomatic by obstructive hydrocephalus. Hemorrhagic onset is sporadically reported in the literature. In contrast to central neurocytomas, neurocytic lesions located within the brain parenchyma, so-called "extraventricular neurocytomas" are very uncommon. To the knowledge of the authors, this is the first case of an extraventricular neurocytoma with histological classic features presenting with intratumoral hemorrhage in adults.
Meningeal solitary fibrous tumors (SFTs) were at first estimated as rare benign tumors which can be cured by total resection. To date, only 37 patients with intracranial SFTs have been reported. Therefore, the natural history of this tumor entity needs more enlightenment. The authors report a case of a 77-year-old female in whom a SFT with infiltration of the transversal sinus was subtotally resected. After a short time, interval tumor recurrence was seen, 2 years and 6 months later second surgery was performed. Immunohistologically, in both specimens typical features for SFT with positivity for CD34, vimentin and BCL-2 and negative for epithelial membrane antigen was seen. No signs for malignancy occurred in the second resection. Notably the MIB-1 index increased from 1 to 5%. In conclusion, consequent long-time follow-up for SFTs are necessary, especially after incomplete tumor resection.