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1/41. Neuronal representation of object orientation.

    The dissociation between object identity and object orientation observed in six patients with brain damage, has been taken as evidence for a view-invariant model of object recognition. However, there was also some indication that these patients were not generally agnosic for object orientation but were able to gain access to at least some information about objects' canonical upright. We studied a new case (KB) with spared knowledge of object identity and impaired perception of object orientation using a forced choice paradigm to contrast directly the patient's ability to perceive objects' canonical upright vs non-upright orientations. We presented 2D-pictures of objects with unambiguous canonical upright orientations in four different orientations (0 degrees, -90 degrees, 90 degrees, 180 degrees ). KB showed no impairment in identifying letters, objects, animals, or faces irrespective of their given orientation. Also, her knowledge of upright orientation of stimuli was perfectly preserved. In sharp contrast, KB was not able to judge the orientation when the stimuli were presented in a non-upright orientation. The findings give further support for a distributed view-based representation of objects in which neurons become tuned to the features present in certain views of an object. Since we see more upright than inverted animals and familiar objects, the statistics of these images leads to a larger number of neurons tuned for objects in an upright orientation. We suppose that probably for this reason KB's knowledge of upright orientation was found to be more robust against neuronal damage than knowledge of other orientations.
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2/41. Type a syndrome of insulin resistance: anterior chamber anomalies of the eye and effects of insulin-like growth factor-I on the retina.

    BACKGROUND: The purpose of this work was to describe the anterior chamber and iris anomalies as well as to evaluate the effects of recombinant human insulin-like growth factor-I (rhIGF-I) on the retinal vessels in 2 diabetic patients with type A syndrome of insulin resistance, a rare condition associated with acanthosis nigricans. methods: Ophthalmologic examinations, including photographs and fluorescein angiograms, were performed before, and 2 and 4 weeks after starting subcutaneous rhIGF-I treatment, and 3 months after withdrawal of rhIGF-I treatment. RESULTS: Both patients had goniodysgenesis with mild elevation of the intraocular pressure. Before and after 2 weeks of treatment with rhIGF-I, the fundus and the fluorescein angiograms were mainly normal. After 4 weeks of rhIGF-I treatment both patients' retinas revealed leakage of fluorescein. Three (case 1) and 4 months (case 2) after withdrawal of rhIGF-I, the fundus of all four eyes were again without leakage. CONCLUSIONS: The anterior chamber anomalies found in these patients may be part of the type A syndrome of insulin resistance and could alert clinicians that these patients might not have the usual type of diabetes. Moreover, the data show that exogenous rhIGF-I administration in patients with type A syndrome of insulin resistance alters the permeability of the superficial layer of retinal capillaries which is comparable to the earliest angiographic changes in childhood diabetic retinopathy. Whether this is a direct effect of rhIGF-I, as suggested by experiments in an animal model, or an indirect effect due to the near-normalization of the glucose levels by rhIGF-I warrants further investigations. Finally, this work points to an important caveat regarding the therapeutic use of rhIGF-I in this patient population.
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3/41. Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration.

    BACKGROUND: Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal-recessive disorder that includes microcephaly, severe mental retardation, and multiple congenital anomalies. Otologic findings are usually limited to descriptions of the auricles. PATIENT AND methods: The authors report inner ear histopathologic findings of a deceased 13-year-old patient with COFS. A histologic study of the inner ear in COFS syndrome has not yet been described. This patient was documented as having a profound bilateral sensorineural hearing loss at the age of 2 years. RESULTS: Histologic evaluation revealed accelerated neural and neuronal degeneration at the cochlear and retrocochlear levels. Remaining myelinated nerve fibers, counted in the spiral lamina, had degenerated by up to 97% when compared with normal innervation densities. Afferent nerve fibers innervating inner hair cells were completely absent, whereas medial efferent fibers to outer hair cells were found. vestibular nerve fibers were less affected. CONCLUSION: The authors report inner ear findings that differ from animal models of primary cochlear neural degeneration and that resemble the pattern of hereditary cochlear nerve degeneration reported in Friedreich's ataxia.
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4/41. Overexpression of CXC chemokines by an adrenocortical carcinoma: a novel clinical syndrome.

    A patient with adrenocortical carcinoma presented with fever, leukocytosis, and increased acute phase reactants. The tumor was infiltrated with neutrophils. Immunohistochemical staining of the tumor showed positive signal for epithelial neutrophil-activating protein-78, an angiogenic and chemotactic CXC chemokine. Conditioned medium from tumor-derived cells (RL-251) showed high concentration of IL-8, epithelial neutrophil-activating protein-78, Gro alpha, and Gro gamma, angiogenic CXC chemokines with a potential role in tumorigenesis. An adrenal cancer/severe combined immunodeficiency mouse chimera was developed. mice grew tumors rapidly, and circulating levels of IL-8 and epithelial neutrophil-activating protein-78 were detected. In contrast, animals transplanted with NCI-H295 cells, a nonchemokine-secreting cell line, grew tumors more slowly and did not have detectable chemokine levels. Similar to the patient, mice with RL-251 tumors developed marked leukocytosis and neutrophilia, and their tumors were infiltrated with neutrophils. mice were passively immunized with epithelial neutrophil-activating protein-78 antisera. A marked decrease in tumor growth was observed. Potential for chemokine production by other adrenocortical tumors was investigated by RT-PCR in archival material. Six of seven adrenal carcinomas and one of three adenomas had cDNA for IL-8; six of seven carcinomas and the three adenomas had cDNA for epithelial neutrophil-activating protein-78. We concluded that the clinical presentation of this case resulted from increased tumor production of chemotactic chemokines. Through their angiogenic and chemotactic properties these chemokines may play an important role in adrenal tumorigenesis.
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5/41. Histopathology and molecular genetics of hearing loss in the human.

    hearing loss is among the most common disabilities of man. It has been estimated that over 70 million individuals in the world are hearing impaired with pure tone averages greater than 55 dB. A genetic etiology is thought to be responsible for over half of early onset hearing loss and at least one third of late onset hearing loss. In this review, examples of the histopathology of the inner ear in known genetic syndromes in the human will be presented in order to provide a structural basis for understanding molecular mechanisms of development and maintenance in the inner ear, and to serve the essential function of validating the applicability of animal genetic models of hearing loss to the human condition.
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6/41. Cerebellar hypoplasia in Werdnig-Hoffmann disease.

    The case of an infant with Werding-Hoffmann disease, who died at the age of 4 1/2 days, is reported. At autopsy there was severe cerebellar hypoplasia, associated with degenerative changes in the brain-stem nuclei. This case supports the concept that cerebellar hypoplasia may develop as a manifestation of the neuronal abiotrophy of Werdnig-Hoffmann disease. A similarity has been noted between the cerebellar lesion found in the child reported here and that produced by viral infection in experimental animals.
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7/41. PAGOD syndrome: eighth case and comparison to animal models of congenital vitamin a deficiency.

    We observed a 46, XY infant with atrophy of the optic nerve, complex congenital heart disease including a double outlet right ventricle, hypoplasia of the right pulmonary artery and lung, eventration of the diaphragm, and ambiguous genitalia. The baby died of cardiac arrhythmias at 204 days. The pattern of malformations was compatible with pulmonary tract and pulmonary artery, agonadism, omphalocele, diaphragmatic defect, and dextrocardia (PAGOD) syndrome. The condition may resemble the malformation complex associated with developmental deficiency of vitamin A or retinoic acid, as described in animal models.
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8/41. Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport.

    Fanconi-Bickel syndrome (FBS, OMIM 227810) is a rare type of glycogen storage disease (GSD). It is caused by homozygous or compound heterozygous mutations within GLUT2, the gene encoding the most important facilitative glucose transporter in hepatocytes, pancreatic beta-cells, enterocytes, and renal tubular cells. To date, 112 patients have been reported in the literature. Most patients have the typical combination of clinical symptoms: hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy, and severely stunted growth. In 63 patients, mutation analysis has revealed a total of 34 different GLUT2 mutations with none of them being particularly frequent. No specific therapy is available for FBS patients. Symptomatic treatment is directed towards a stabilization of glucose homeostasis and compensation for renal losses of various solutes. In addition to the clinical and molecular genetic aspects of FBS, this review discusses the pathophysiology of the disease and compares it to recent findings in GLUT2 deficient transgenic animals. An overview is also provided on recently discovered members of the rapidly growing family of facilitative glucose transporters, which are novel candidates for congenital disorders of carbohydrate metabolism.
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9/41. Nonsteroidal anti-inflammatory drugs and reversible female infertility: is there a link?

    Nonsteroidal anti-inflammatory drugs (NSAIDs) are frequently prescribed to women of child-bearing age. Three case series highlight the possibility of a link between NSAIDs and reversible infertility. The pharmacological target of NSAIDs is cyclo-oxygenase (COX), which catalyses the first rate-limiting step in the production of prostaglandins. COX-2, one of two isoenzymes, is active in the ovaries during follicular development. Its inhibition is thought to cause luteinised unruptured follicle (LUF) syndrome, an anovulatory condition characterised by clinical signs of ovulation but in the absence of follicular rupture and ovum release. The evidence linking regular NSAID use to reversible LUF syndrome comes from animal studies and three clinical studies. COX-2-deficient mice have severely compromised ovulation in the presence of apparently normal follicular development. Experimental administration of prostaglandins induced ovulation in rabbits and this was blocked by the administration of indomethacin. The three clinical studies demonstrated the induction of delayed follicular rupture or LUF in previously ovulating women by the administration of NSAIDs. A link can therefore be identified between NSAID use and reversible female infertility and NSAID withdrawal should be considered prior to or concurrent with fertility investigations.
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10/41. A histologic study of nonmorphogenetic forms of hereditary hearing impairment.

    It appears that many forms of syndromic and nonsyndromic hereditary hearing impairment are secondary to either neuroepithelial or cochleosaccular dysfunction. Making this distinction can be difficult in human temporal bone specimens; however, this added knowledge may ultimately provide prognostic and therapeutic information in hearing habilitation. Fundamental studies using animal models of different types of hereditary deafness may also prove useful in this respect.
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