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Cortically evoked motor responses in patients with Xp22.3-linked Kallmann's syndrome and in female gene carriers.

Patients with Kallmann's syndrome show hypothalamic hypogonadism, hyposmia, and congenital mirror movements. As a correlate, a defect of gonadotropic neuron migration into the brain was recently detected. Considering abnormal outgrowth of neurons also as a possible substrate underlying mirror movements, we studied 3 patients and 2 asymptomatic female gene carriers from a kindred with proven linkage to Xp22.3, using focal transcranial magnetic stimulation of motor cortex hand areas with a figure-eight coil. In all 3 affected brothers, bilateral responses could be evoked almost simultaneously in their thenar muscles (slight latency differences were statistically insignificant). In contrast, the mother and the maternal aunt showed only unilateral, normal thenar responses, even with maximum tolerable stimulator output and high signal amplification. Correspondingly, mirror movements were present in the patients, but not in the gene carriers. Bilaterality of cortically evoked hand muscle responses and mirror movements, therefore, behaved as X-chromosomal recessive traits. A likely cause might be a disorder of neuronal outgrowth in the motor system, particularly of inhibitory callosal fibers. For normal anatomical development of the motor system, one intact Xp22.3 gene seems necessary.

Agenesis of Corpus Callosum

Olfactory acuity in the positive and negative syndromes of schizophrenia.

The olfactory thresholds of 46 schizophrenic subjects were measured. This group yielded 11 patients with a stringently defined positive syndrome and 12 with a negative syndrome when rated with the Positive and Negative Syndrome Scale. The negative group had a significantly (p less than 0.01) higher olfactory threshold than the positive group although neither of the groups differed significantly from a control group. Implications of this finding are discussed.

Adolescent

[Clinical and pathogenic aspects of NARES (non-allergic rhinitis with eosinophilic syndrome)].

Non-allergic rhinitis with eosinophilic syndrome (NARES) accounts for 14% of rhinitis. It is defined by a syndrome of nasal hyper-reactivity over more than three months, the absence of any atopic factor, and an eosinophilia of nasal secretions 20% greater than the leukocytes. The main features are evidenced by the authors on the basis of 20 observations. The symptoms are significantly more marked than in other forms of rhinitis. Olfactive disorders occur very frequently. The symptoms often fail to respond to anti-histamines and even corticoids. The frequency of a micropolyposis starting in the meatus is confirmed by endoscopy and a CT-scan reveals the frequency of hyperplasia of the sinusal mucosa (affecting first and foremost the ethmoid cells). Hyperadrenergy is frequently evidenced by papavenire IDR and by the isoprenaline IV test. Two cases revealed the coexistence of an intolerance to aspirin and a bronchial hyper-reactivity, evidenced by the Carbachol test. The histological and immunofluorescent examination of the pituitary mucosa evidenced an eosinophilic infiltration in 40% of cases. This infiltrate is often labelled by the BB10 monoclonal antibody. The evolution of NARES appears to involve three stages: secretory eosinophilia with a healthy mucosa, eosinophilic mucosa infiltration, and in situ activation of the eosinophils. An evolution towards an eosinophilic PNS and then a triad was observed in two cases. Hopothèses are put forward by the authors to explain the local nasal influx of eosinophils.

Chronic Disease

Pineal gland in rats with 7,12-dimethylbenz(a)anthracene-induced mammary tumors subjected to manipulations known as enhancers of pineal actions.

The ultrastructure of pinealocytes was studied in rats with 7,12-dimethylbenz(a)anthracene-induced mammary tumors which were subjected to experimental manipulations known as enhancers of pineal actions (anosmia, underfeeding or cold exposure). In these animals we found: (I)--more nuclei with deep nuclear invaginations; (II)--a large number of cytoplasmic organelles, including lipid droplets, myeloid bodies, synaptic ribbons and lysosomes; (III)--numerous degenerative changes. In general, we found an increase in structural features related to pineal photoneuroendocrine activity. Our results indicate that pineal-dependent inhibition of neoplastic growth induced by these experimental manipulations, previously reported, can be mediated through an increase in pineal metabolic activity.

9,10-Dimethyl-1,2-benzanthracene

Hereditary bimanual synkinesis combined with hypogonadotropic hypogonadism and anosmia in four brothers.

A new genetic syndrome of the combined occurrence of hypogonadotropic hypogonadism, anosmia (Kallmann syndrome) and congenital mirror movements in four brothers is presented. Mirror movements were manifest only within the distal parts of the upper extremities and resembled congenital mirror movements described for isolated or familial cases or those occurring in combination with other genetic defects. The hypothesis is supported, that a midline fusion disorder with preponderance of uncrossed pyramidal tract fibers is a major pathogenetic factor for the occurrence of congenital mirror movements.

Adult

Olfaction and psychiatry.

Recent clinical studies have identified significant olfactory deficits in several neuropsychiatric disorders, notably Alzheimer's disease and Parkinson's disease. These have correlated with neurochemical and neuropathological studies of the olfactory system. The presence of a specific sensory deficit may be related to the localisation of pathology within the brain. There is a need for incorporation of olfactory testing into routine clinical examination.

Brain

Olfactory impairment after chronic occupational cadmium exposure.

Disorders of olfaction affect millions of Americans, but the extent to which occupational and environmental exposures contribute to these disorders is unknown. We examined 55 workers with chronic occupational exposure to cadmium fumes in a brazing operation. We estimated cadmium body burden using urinary cadmium levels and assessed cadmium-induced renal damage by urinary beta 2-microglobulin levels. We quantified olfactory function using a standardized test that measured two components of olfaction, butanol detection threshold and odor identification, and compared workers with a reference group. Forty-four percent of the cadmium-exposed workers were mildly hyposmic, and 13% were either moderately or severely hyposmic. In the reference group, 31% were mildly hyposmic, and the rest were normosmic. The workers with both high urinary cadmium levels and tubular proteinuria had the most significant olfactory dysfunction, with a selective defect in odor detection threshold. Our findings suggest that chronic occupational cadmium exposure sufficient to cause renal damage also is associated with impairment in olfactory function.

Adult

A review of olfactory dysfunctions in man.

Although a large number of individuals experience olfactory disorders following accidents, disease states, medical interventions, aging, and exposure to environmental chemicals and pollutants, few medical practitioners have the expertise or staff to provide appropriate clinical evaluation, treatment, counseling, or referral for such patients. The present review examines studies associated with the diagnosis and treatment of olfactory disorders, as well as ones noting olfactory signs as diagnostic markers for brain tumors and other serious problems. A basic taxonomy of smell dysfunctions is presented, along with a review of etiologic factors, including local diseases and mechanical obstruction of the airways, viral infections, trauma, congenital anomalies, endocrine disorders, tumors, psychiatric disorders, aging, drugs, environmental and industrial pollutants, iatrogenic factors, and miscellaneous diseases. A discussion of current disability compensation guidelines in the United States and Britain is also presented.

Aging

Olfactory, auditory, and gustatory function in patients with bonadal dysgenesis.

The olfactory, auditory, and gustatory functions of 20 women with gonadal dysgenesis were studied. Various abnormalities of these functions were found, and they occurred principally in patients with mosaicism of the sex chromosomes. This is further evidence of the increased likelihood of various somatic abnormalities among women with gonadal dysgenesis, and particularly among those who carry more than one line of sex chromosomes.

Female

Olfaction in migraineurs.

Many investigators have described olfactory dysfunction among migraineurs. Olfactory stimuli can precipitate migraine, and olfactory hallucinations can occur as auras of migraines or as part of the symptom complex. Despite many reports linking olfactory phenomena and migraine, no evaluations of the olfactory abilities of migraineurs have been documented. To begin such assessments, sixty-seven consecutive migraine patients were given Pyridine odor threshold tests. Twelve of them (18%) scored as hyposmic or anosmic. In comparison, 1% of the general population of the U.S. is hyposmic or anosmic. Aside from possible diagnostic or methodological error, several possibilities may account for our result: migraine may induce olfactory pathology; olfactory pathology may induce migraine, or; a common pathogen may induce both olfactory dysfunction and migraine. The association of migraine with the emotional component of the limbic system has long been recognized, and our results strengthen its association with the olfactory component as well. Headache patients should be tested for olfactory loss and warned of such risks as inability to detect gas leaks and spoiled food.

Humans