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At least 289 records · Page 16Linked to original sources

Isolated hypogonadotrophic hypogonadism: a family with autosomal dominant inheritance.

A family is reported in which isolated hypogonadotrophic hypogonadism is inherited as an autosomal dominant condition with variable expression. In previous familial cases, inheritance was autosomal recessive. Comparison is made with the endocrine and genetic findings in Kallmann's syndrome, which should be considered a separate disorder. There is difficulty in drawing a sharp distinction between hypogonadotrophic hypogonadism and constitutional delay in puberty in this family.

Adolescent↗

Disorders in taste and smell.

Although many conditions and medications have been associated with chemosensory disturbances, data from major chemosensory clinical research centers support three major disorders as being causative: nasal and paranasal sinus disease (21%), post-upper respiratory tract viral infection (19%), and head trauma (14%). Despite extensive evaluation, 22% of patients do not demonstrate identifiable causation.

Craniocerebral Trauma↗

Juvenile diabetes mellitus and optic atrophy.

Nine patients with the syndrome of juvenile diabetes mellitus and optic atrophy exemplified the wide range of manifestations of this syndrome. The disease may occur as a recessively inherited or sporadic disorder and tends to have multi-system involvement. Hearing loss, diabetes insipidus, and evidence of cerebellar or central vesitbulo-ocular dysfunction are common.

Adolescent↗

Imaging of chemosensory loss.

Clinical assessment of olfactory dysfunction can be challenging. Because olfactory disturbances comprise most chemosensory abnormalities with imaging findings, this article focuses on the imaging of smell disorders. This article reviews the normal imaging appearance of the olfactory apparatus, discusses the respective roles of CT and MRI, provides illustrative imaging of typical pathologic lesions, and discusses a clinically based imaging strategy.

Chemoreceptor Cells↗

Children who can't smell the coffee: isolated congenital anosmia.

Two children with isolated congenital anosmia, a rare syndrome of deficient restricted neuronal migration, are presented with early diagnosis confirmed by standardized smell testing and detailed neuroimaging studies. Recognition of this disorder and its spectrum of presentations provides important insights into the molecular mechanisms underlying the development of the olfactory system.

Adolescent↗

Chronic rhinosinusitis and olfactory dysfunction.

Chronic rhinosinusitis encompasses a group of disorders characterized by inflammation of the mucosa of the nose and paranasal sinuses of at least 12 weeks' duration. In addition to nasal obstruction and discharge, chronic sinusitis is a common cause of olfactory dysfunction. However, smell loss is often overlooked in the clinical setting of sinusitis, with attention instead focused on the respiratory complaints of nasal obstruction, hypersecretion, and facial pressure and pain. Olfactory dysfunction can result in problems including safety concern, hygiene matters, appetite disorders, and changes in emotional and sexual behavior. Although smell loss related to sinonasal disease is probably the most treatable form of olfactory dysfunction, most studies show that improved olfactory sensation in this setting is usually transient and incomplete.

Chronic Disease↗

[Drug induced anosmia with nifedipine].

INTRODUCTION: Drug-induced dysosomia is rare and its prevalence difficult to estimate, notably because of the lack of satisfactory criteria of imputability. OBSERVATION: In a 59 year-old patient consulting for olfactory disorders that had progressed over the past 4 month, diagnosis of dysosomia secondary to the administration of nifedipine was maintained with a considerable score of imputability (negative clinical controls and partial regression of the disorder). COMMENTS: Drugs used in cardiology represent one of the major therapeutic classes that can lead to dysfunction in smell and/or taste. These drugs are nifedipine reported in 1985, metoprolol (beta blocker), diltiazem and, more recently, enalapril.

Calcium Channel Blockers↗

Smell impairment. Can it be reversed?

Patients who have lost the sense of smell usually come to a doctor on their own, reporting loss of the sense of taste. Inflammation (often due to allergy), viral infection, and head trauma are common causes of olfactory disturbance. History taking may provide clues to these and other problems (eg, toxin exposure, congenital dysosmia). Workup should not begin until a standardized test has been given that established impairment of the sense of smell. The only truly reversible cause is inflammation, which is confirmed when smell returns after a course of corticosteroid. Sinus computed tomography is necessary to view the olfactory cleft; lack of obstruction indicates that smell impairment is nonreversible. Patients deserve an explanation for their disorder and a prognosis. If restoration of their sense of smell is unlikely, patients should be cautioned to take steps to ensure safety in regard to such dangers as gas leaks, smoke, and spoiled foods.

Algorithms↗

[Drug side effects on the nasal mucosa and sense of smell].

Several drugs may induce pathologic changes of the nasal mucosa, especially at a long-term treatment. The clinical appearance of an allergic or vasomotoric rhinopathy, a chronical hyperplastic or an atrophic rhinitis, hemorrhagic changes of the mucosa with the incidence of epistaxis or smelling disorders may be caused by several drugs. The ENT-specialist, therefore, should always take in consideration the various drugs, which the patient received but mostly have been prescribed by another doctor.

Administration, Intranasal↗

Disorders of smell and taste.

This article describes the anatomy and physiology of the gustatory and olfactory organs in man. Dysfunction of these senses is closely examined with respect to etiology, diagnosis, and treatment. Taste and smell are closely interrelated. An influence on the function of one sense often affects the function of the other sense.

Humans↗

[Refsum syndrome, heredopathia atactica polyneuritiformis in the view of the otolaryngologist (author's transl)].

An own observation of Refsum's disease is described. The female patient of 39 presented all characteristic symptoms of the disease, which had developed progressively starting at the age of 25: atypical retinitis pigmentosa with nightblindness and concentric constriction of the visual fields, cataracts, peripheral polyneuropathy with reduced nerve conduction velocity, ataxia, high protein level in CSF, ichthyosis-like cutaneous manifestations, sceletal anomalies, progressive sensorineural deafness, anosmia. Refsum's disease is a metabolic disorder based on an inborn enzyme defect, inherited by autosomal recessive transmission. It causes storage of phytanic acid in the body. Treatment consists in diet low in phytol and phytanic acid as well as large volume plasma exchanges.

Adult↗

Clinical disorders of smell and taste.

Renewed attention to chemosensory dysfunction has revealed that a substantial portion of the population are affected during their lives, many simply as a result of aging. The authors discuss terminology, assessment, etiology, and prognosis and compare current understanding with that presented by Mackenzie in 1884.

Humans↗

Dietary assessment of patients with chemosensory disorders.

OBJECTIVE: To identify individuals who are at nutritional risk because of taste and/or smell disorders. DESIGN: Patients referred by a private physician for evaluation of a chemosensory complaint underwent an extensive battery of taste and smell tests, otorhinolaryngologic tests, and, in some cases, periodontal examinations and completed a dietary/health questionnaire, a 24-hour recall, and a 2-day diet record. SETTING: Patients were interviewed at the Monell-Jefferson Chemosensory Clinical Research Center, Philadelphia, Pa. SUBJECTS: We studied 310 patients (142 men and 168 women) with a primary complaint of chemosensory disorder. Mean age was 50.5 +/- 15.7 (range = 15 to 93 years). Normative data were provided by an additional 79 healthy control subjects (42 men and 37 women) with no taste or smell complaint. Their mean age was 48.8 +/- 18.8 years (range = 20 to 83 years). MAIN OUTCOME MEASURES: Chemosensory disorder-related changes in food habits (determined by questionnaire responses), nutrient intake (analysis of 3-day food records), and body weight (self-reported). STATISTICAL ANALYSES: Analysis of covariance, followed by post hoc analysis of adjusted means with the Tukey honestly significant difference test, was used to explore group differences in nutrient intake and body weight. chi 2 Analysis and the Pearson correlation coefficient were used to evaluate relationships between variables. RESULTS: When groups were classified according to chemosensory diagnosis, group differences were observed on global appetitive questions, but complaints were high in all groups. Approximately 65% (203 of 310) of patients had self-reported body weights within 5% of their predisorder weight, but clinically meaningful weight gains or losses were observed in each group. Patients with multiple chemosensory disorders were most likely to lose weight, whereas the incidence of weight gain was highest in patients with anosmia. Patient report of a change in eating patterns was the best predictor of weight change among the variables examined. CONCLUSIONS: Dietary responses to chemosensory disorders vary widely and may place patients at nutritional risk. Until better prognostic indexes are identified, dietitians should query patients about disorder-related alterations in eating patterns and provide appropriate individualized counseling.

Adult↗

An epidemiological study of postviral olfactory disorder.

Postviral olfactory disorder develops after infection with the common cold, and is a relatively severe and prolonged disorder without rhino-sinusitis. This epidemiological study aimed to characterize its clinical pathology and determine the causative virus. Postviral olfactory disorder occurs most commonly in middle-aged women and is most prevalent in spring and summer. A comparison of the monthly frequency of the disorder with the incidence of isolation of various viruses suggest that the influenza virus, respiratory syncytial virus, and herpes virus are not causative viruses, while parainfluenza virus type 3 is most likely to be a causative virus. This conclusion is supported by immunological study and analysis of symptoms of the cold. All patients with postviral olfactory disorder had increased serum antibody titre for parainfluenza virus type 3. No prominent or specific symptoms of common cold were identified as a potential trigger of this syndrome in patient questionnaires.

Adult↗

[Olfactory dysfunctions. Epidemiology and therapy in Germany, Austria and Switzerland].

INTRODUCTION: Olfactory dysfunction has been reported to affect more than 200,000 patients a year in the USA. The aim of this survey was to obtain comparable epidemiological data and treatment information on olfactory dysfunction in German speaking countries. METHODS: Questionnaires were sent to all otorhinolaryngology departments in Germany, Austria and Switzerland; 52% of hospitals completed the survey. RESULTS: An average of 46 patients with olfactory dysfunction were treated per hospital every month. Hyp- and anosmia were most commonly caused by inflammatory diseases of the nose/paranasal sinuses (53%), respiratory dysfunction (19%), or postviral conditions (11%). Steroids were used most frequently for pharmacological treatment (topically 82%; orally 65%). Approximately one third of the clinics used B vitamins, or zinc; 80% of the hospitals performed surgery to treat underlying diseases. Acupuncture and smell training was used by approximately 20%. CONCLUSION: A total of 79,000 patients per year are treated for olfactory dysfunction in German hospitals. The vast majority of these disorders (72%) is caused by sinunasal diseases. The quality control of therapeutic strategies is urgently needed.

Austria↗

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.

Defects in cilia are associated with several human disorders, including Kartagener syndrome, polycystic kidney disease, nephronophthisis and hydrocephalus. We proposed that the pleiotropic phenotype of Bardet-Biedl syndrome (BBS), which encompasses retinal degeneration, truncal obesity, renal and limb malformations and developmental delay, is due to dysfunction of basal bodies and cilia. Here we show that individuals with BBS have partial or complete anosmia. To test whether this phenotype is caused by ciliary defects of olfactory sensory neurons, we examined mice with deletions of Bbs1 or Bbs4. Loss of function of either BBS protein affected the olfactory, but not the respiratory, epithelium, causing severe reduction of the ciliated border, disorganization of the dendritic microtubule network and trapping of olfactory ciliary proteins in dendrites and cell bodies. Our data indicate that BBS proteins have a role in the microtubule organization of mammalian ciliated cells and that anosmia might be a useful determinant of other pleiotropic disorders with a suspected ciliary involvement.

Animals↗

Smell disorders in ENT clinic.

Olfactory disorders may have several causes. Nasal polyposis or chronic sinusitis can result in nasal obstructions that block the access of odorants to the olfactory epithelium, and this can explain the development of olfactory disorders. On the other hand, when nasal endoscopy has revealed that the nasal cleft is free of inflammatory or tumoural disease, olfactory disorders may be explained by neuroepithelial or central nervous system disturbances. This paper will provide information about current approaches to smell disorders in otorhinolaryngology. Major causes will be reviewed as outcomes after medical or surgical treatment. An algorithm will also be given to standardise clinical investigations, including psychophysical olfactory testing, imaging and electrophysiological examinations.

Central Nervous System Diseases↗

Modern psychophysical tests to assess olfactory function.

The sense of smell significantly contributes to quality of life. In recent years much progress has been made in understanding the biochemistry, physiology and pathology of the human olfactory system. Olfactory disorders may arise not only from upper airway phlogosis but also from neurodegenerative disease. Hyposmia may precede motor signs in Parkinson's disease and cognitive deficit in Alzheimer's disease. These findings suggest the complementary role of olfactory tests in the diagnosis and management of neurodegenerative diseases. In this report we present a review of modern olfactory tests and their clinical applications. Although rarely employed in routine clinical practice, the olfactory test evaluates the ability of odour identification and is a useful diagnostic tool for olfaction evaluation. Olfactory screening tests are also available. In this work we strongly recommend the importance of an ENT evaluation before the test administration and dissuade from a self-administration of an olfactory test.

Humans↗