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At least 775 records · Page 43Linked to original sources
PubMed2004

Smell testing: an additional tool for identification of adult Refsum's disease.

BACKGROUND: Adult Refsum's disease (ARD) is characterised by the presence of retinitis pigmentosa, ataxia, deafness, sensory neuropathy, and bony changes. The diagnosis is confirmed by the presence of phytanic acidaemia. Although reduced smell function has been described in ARD, its value in the diagnosis of the condition has not been fully evaluated. OBJECTIVE: To investigate the prevalence and degree of olfactory dysfunction in patients with ARD. METHOD: The olfactory function of 16 patients with ARD was assessed using the quantitative University of Pennsylvania Smell Identification Test (UPSIT). RESULTS: All patients had complete anosmia or grossly impaired smell function with a mean UPSIT score of 14.7 (SD 4.7) (normal > 34) despite having been treated with an appropriate diet for a median of 15 years (range 1-25). CONCLUSIONS: Identification of ARD patients can be facilitated by using the UPSIT in combination with the presence of retinitis pigmentosa, even if they have no neurological or bony features. Phytanic acid screening should be performed in any patient manifesting these two signs.

Adolescent↗
PubMed1983

Familial spastic paraplegia with Kallmann's syndrome.

A sibship is reported in which two males have spastic paraparesis and Kallmann's syndrome (hypogonadotrophic hypogonadism and anosmia). One of the brothers also is color blind. The association of familial spastic paraplegia and Kallmann's syndrome has not been described previously.

Adult↗
PubMed1997

Herpes simplex encephalitis treated with acyclovir: diagnosis and long term outcome.

OBJECTIVES: The frequency and characteristics of the long term sequelae of herpes simplex encephalitis were assessed after treatment with acyclovir. METHODS: Patients were included if they were treated with acyclovir and the diagnosis of herpes simplex encephalitis was confirmed by culture of herpes simplex virus (HSV) from the brain, an increase in the CSF HSV antibody titre, or detection of HSV deoxyribonucleic acid in the CSF. Each patient's medical records were reviewed and surviving patients were interviewed and examined. RESULTS: A diagnosis of herpes simplex encephalitis was confirmed in 42 patients. Five patients (12%) died in the first month. Three patients (7%) had severe neurological sequelae and died after a longer interval. All but one of the 34 surviving patients had neurological symptoms, an abnormal neurological examination, or both. Twenty patients (48%) performed everyday activities as well as before herpes simplex encephalitis; nine patients (21%) were living independently, but were functioning at a lower level than before the illness; and five patients (12%) had a severe neurological deficit. Twenty nine of the 34 survivors were assessed six months to 11 years after herpes simplex encephalitis. The most common long term symptoms were memory impairment (69%), personality and behavioural abnormalities (45%), and epilepsy (24%). Short term memory impairment (70%), anosmia (65%), and dysphasia (41%) were the most common signs. CONCLUSIONS: Although acyclovir has reduced the mortality of herpes simplex encephalitis, 30% of this group of patients either died or had a severe neurological deficit. The other 70% of the patients regained independence in activities of daily living, but most of these people had persistent neurological symptoms, signs, or both.

Acyclovir↗
PubMed1994

Kallman syndrome versus idiopathic hypogonadotropic hypogonadism at MR imaging.

PURPOSE: To identify morphologic differences between Kallman syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH) and establish a role for magnetic resonance (MR) imaging in these disorders. MATERIALS AND METHODS: Twenty-eight patients were compared with 10 eugonal male volunteers. Eighteen patients had KS (hypogonadotropic hypogonadism with anosmia) and 10 had IHH. All participants underwent hormone analysis, a sniff-bottle smell test, and gadolinium-enhanced MR imaging. Changes in the hypothalamic-hypophyseal region and the rhinencephalon were evaluated. RESULTS: MR imaging revealed intracranial morphologic changes in all patients on plain T1-weighted sections. Seventeen patients with KS demonstrated aplasia of an olfactory bulb; one olfactory sulcus was absent in six, rudimentary in four, and normal in eight. Olfactory bulbs were present in all 10 IHH patients and three showed one slightly hypoplastic bulb. Ten patients with KS and three with IHH showed an enlarged paranasal sinus system. Further MR findings were similar. CONCLUSION: MR imaging demonstrates abnormalities of the rhinencephalon present in KS patients and occasionally absent in IHH patients.

Adult↗
PubMed1981

Metabolic contribution of CO2 to the "group effect".

Metabolic rates (VCO2) were determined in 22 mice. Subsequently 11 of the mice were placed into separate metabolic chambers. Each chamber was connected to one other metabolic chamber containing one mouse. The metabolic rates of the 11 "donor" and the 11 "'recipient" mice were measured. Afterwards the direction of airflow was reversed so that the previous donor became the recipient mouse and the previous recipient became the donor. Again VCO2 was measured. When the mice were donors, VCO2 = 2.75 +/- 1.0 ml CO2 . g-1 . h-1, whereas when recipients, VCO2 = 1.9 +/- 1.0 ml CO2 . g-1 . h-1 (P less than 0.01). Eleven of the mice were then made anosmic using an intranasal instillation of 5% ZnSO4. Anosmia was confirmed behaviorally. The metabolic rates of the anosmic and control mice were again determined when each was a donor and a recipient. VCO2 dropped from 3.1 to 1.8 ml CO2 . g-1 . h-1 from donor status to recipient status. Finally, VCO2 was determined when all 22 mice were exposed to 0.05% CO2 or 0.2% CO2 in air (the level of CO2 in the exhaust air of donor mice). VCO2 dropped from 3.0 +/- 0.38 on 0.05% CO2 to 1.7 +/- 1.01 on 1.01 ml CO2 . g-1 . h-1 on 0.2% CO2 in the anosmic group and from 2.9 +/- 0.29 to 1.91 +/- 0.51 ml CO2 . g-1 . h-1 in the control group when exposed to the same gases. These experiments suggest that the airborne factor emanating from the donor chambers was acting systematically and not via the olfactory system. This factor may be a low level of CO2.

Animals↗
PubMed1993

Role of olfaction in starch and oil preference.

Two different techniques were used to assess the role of olfaction in the preference rats show for dilute nutrient suspensions and solutions. Removal of the olfactory bulbs reduced but did not abolish preference for 1% starch and oil emulsions. Removal of the olfactory bulbs also reduced preference for sucrose, Polycose, and saccharin. In another experiment, rats were rendered anosmic with intranasal zinc sulfate. The degree of anosmia was evaluated by measuring preference for an aqueous solution of citral and vanillin. Rats whose avoidance of citral plus vanillin had been abolished by zinc sulfate continued to prefer a 1% starch suspension over vehicle, although starch preference was significantly reduced. It is concluded that starch and oil preference is mediated by both olfactory and nonolfactory cues.

Animals↗
PubMed2000

A novel nonsense mutation of the KAL gene in two brothers with Kallmann syndrome.

Kallmann syndrome (KS), defined by the association of hypogonadotropic hypogonadism and anosmia or hyposmia, can be caused by mutations in the KAL gene on Xp 22.3. This gene encodes an extracellular matrix glycoprotein called anosmin-1, which belongs to the class of cell adhesion molecules. In the absence of a functional KAL protein, migration of both olfactory and gonadotropin-releasing hormone neurons is arrested. A defective anosmin-1 molecule may also play a role in the development of synkinesia and renal agenesis, which are exclusively seen in the X-linked form of KS. We describe the clinical presentation and molecular diagnosis of the defect in two brothers with KS. An X-linked mode of transmission was assumed on the basis of synkinesia and the presence of oligomenorrhoea in the mother. A novel nonsense mutation was found in exon 13 of the KAL gene, encoding the region of the fourth fibronectin type III repeat of anosmin-1, which results in an apparently nonfunctional truncated protein.

Adolescent↗
PubMed2000

Duplication of the hypophysis.

The authors describe an 11-year-old girl with duplication of a pituitary gland and hypertelorism. Of the 14 cases described to date, only 2 others have lacked associated major facial or oral anomalies. Two separate glands, respective stalks and hypothalamic enlargement were incidentally found on MR imaging performed to evaluate the patient's complaint of anosmia. A tortuous fusiform dilatation of one pericallosal artery was also discovered. A review of hypophyseal embryogenesis is presented. It is now evident that duplication of the pituitary can occur without other major dysmorphias. This may infer that notochord/prochordal plate deficits are not a prerequisite for hypophyseal duplication.

Cerebral Angiography↗
PubMedDate not supplied

Severe dysosmia is specifically associated with Alzheimer-like memory deficits in nondemented elderly retirees.

OBJECTIVES: To determine whether or not (1) impaired olfactory function is associated with impaired memory on neuropsychological testing in healthy retirees, and if so then (2) whether memory impairment is most consistent with a mesiotemporal rather than frontal system disorder. METHODS: 173 independent residents of a continuing care retirement community were studied. Subjects completed the University of Pennsylvania Smell Identification Test (UPSIT) and a battery of both general and specific cognitive measures that included the Mini-Mental State Examination (MMSE) and the Executive Interview (EXIT25). Subjects were examined twice over 3 years. RESULTS: UPSIT performance was normal in 21% and in the 'anosmic' range in 25% of subjects. Anosmic UPSIT performance was associated with significantly worse performance on all cognitive tests. However, only short-term verbal memory was independently associated with UPSIT-defined anosmia. This association remained significant after adjusting for the other cognitive and sociodemographic variables. The memory deficits of anosmic subjects were qualitatively consistent with a cortical type (type 1) dementing illness such as Alzheimer's disease (AD). Over time, UPSIT-defined 'anosmic' cases suffered significantly greater declines on both the MMSE and the EXIT25, independently of baseline age, gender and MMSE score. CONCLUSIONS: Impaired odor identification in individuals without overt dementia is associated with an AD-like memory impairment and an increased rate of cognitive decline. The comorbid association of these deficits is consistent with the known hierarchical spread of preclinical AD pathology and may be a specific indicator of future clinical AD dementia.

Aged↗
PubMedDate not supplied

Extensive primary Ewings' sarcoma in the greater wing of the sphenoid bone.

We describe a rare case of an extensive primary cranial Ewing's sarcoma located in the greater wing of the sphenoid bone with extension to the orbit, the endocranium, the parapharyngeal and infratemporal space. The patient presented with diplopia, anosmia and prolapse of the left eye. He was given chemo- and radiotherapy and was free of symptoms on re-examination 1.5 years later. The prognosis of Ewing's sarcoma in the absence of surgery is uncertain, but prompt treatment appears to have a satisfactory therapeutic outcome. In the future, more cases should be studied in order to investigate the biological behaviour of a primary cranial Ewing's sarcoma.

Adult↗
PubMed2006

Posttraumatic olfactory loss.

Head injury is the leading cause of posttraumatic anosmia. Complete or partial loss of olfactory function may occur when the nasal passages are blocked, olfactory nerves are injured or there are contusions or hemorrhages in olfactory centers of the brain. Evaluation of patients with posttraumatic olfactory loss should include a physical examination by the otolaryngologist. Nasal endoscopy and radiological studies should be performed as well as olfactory function tests to determine the degree and type of olfactory impairment. Although treatment options may be limited, physicians should provide information and counseling regarding the risks and hazards associated with loss of olfactory function. For some individuals such as cooks, firefighters, and research scientists, an assessment of vocational activities should be performed prior to reentry into the workplace. Individuals with impaired olfactory function may be unable to detect important warning signs such as gas leaks, volatile chemical fumes and fires and therefore place themselves and coworkers at an increased risk for serious injury or death.

Craniocerebral Trauma↗
PubMed2006

Molecular pathogenesis of Kallmann's syndrome.

Hypogonadotrophic hypogonadism (HH) is characterized by delayed or absent pubertal development secondary to gonadotrophin deficiency. HH can result from mutations of the gonadotrophin-releasing hormone receptor 1, the gonadotrophin beta-subunits, or various transcription factors involved in pituitary gland development. HH occurs in DAX1 mutations when associated with adrenal insufficiency (adrenal hypoplasia congenita), and is also linked with obesity in patients with mutations of leptin and its receptor, as well as mutations in prohormone convertase 1. Rarely, HH has resulted from kisspeptin receptor (GPR54) mutations, a gene implicated in the regulation of pubertal onset. When occurring with anosmia (a lack of sense of smell), HH is referred to as Kallmann's syndrome (KS). Two KS-related loci are currently known: KAL1, encoding anosmin-1, responsible for X-linked KS, and KAL2, encoding the fibroblast growth factor receptor 1 (FGFR1), mutated in autosomal dominant KS. Anosmin-1 is an extracellular glycoprotein with some unique structural characteristics; it interacts with both urokinase-type plasminogen activator and FGFR1. It has previously been shown that anosmin-1 enhances FGFR1 signalling in a heparan sulphate-dependent manner, and proposed that anosmin-1 fine-tunes FGFR1 signalling during olfactory and GnRH neuronal development. Here, we review the known normosmic causes of HH, and discuss novel developmental and molecular mechanisms underlying KS; finally, we introduce three novel genes (NELF, PKR2, and CHD7) that may be associated with some phenotypic features of KS.

Extracellular Matrix Proteins↗
PubMed1980

Thalamocortical mechanisms in odor-guided behavior. II. Effects of lesions of the mediodorsal thalamic nucleus and frontal cortex on odor preferences and sexual behavior in the hamster.

The role of the thalamocortical "olfactory" pathway in odor preferences and sexual behavior was examined in the hamster, a species which depends crucially upon olfaction for mating. Before and after ablation of primary or secondary olfactory structures, male hamsters were tested for threshold, interest, and preference for the odor of an estrus female hamster and other odors. Sexual competency was also observed in daily mating sessions. Disruption of the primary olfactory pathway resulted in an absence of interest in odors and mating. Lesions of the mediodorsal thalamic nucleus or frontal neocortex of the rhinal sulcus did not result in anosmia, but did eliminate or alter odor preferences and resulted in inappropriate, inefficient, precopulatory and copulatory behavior. It appears that substructures in the thalamofrontal pathway playa role in discriminative or cognitive aspects of processing adaptively significant stimuli.

Animals↗
PubMed1975

The pineal gland of the blind-anosmic female rat: its influence on medial basal hypothalamic lrh, pif and/or prf activity in vivo.

25-day-old female rats were left intact, or rendered either blind-anosmic or blind-anosmic-pinealectomized. Five weeks later, blind-anosmic animals were found to possess significantly depressed body, anterior pituitary, uterine and ovarian weights. The pituitary levels of LH were elevated while pituitary prolactin was depressed in the dual sensory-deprived rats. Blind-anosmic animals also had significantly depressed plasma levels of LH and elevated plasma levels of prolactin. The effects of blinding and anosmia were effectively reversed by pinealectomy. Ovariectomized, estrogen and progesterone-treated (OVX, EP-treated) rats that received an intracarotid injection of a medial basal hypothalamic (MBH) extract from intact or from blind-anosmic-pinealectomized female rats exhibited a marked rise in plasma LH to a peak at 10 min after injection. This peak was followed by a steady decline in plasma LH concentration. Animals injected with MBH extract from blind-anosmic rats also demonstrated a rise in plasma LH with the levels remaining more or less constant for the 10 and 20-min samples. Rather than declining, the plasma LH levels in 3 out of 4 rats exhibited a further increase until the 40-min sample. The injection of either cortical extract or saline had no effect on plasma LH levels. OVX, EP-treated rats receiving either MBH extracts from intact or blind-anosmic rats or cortical extract exhibited a depression in plasma prolactin titers 5 min following injection. This response was followed by a slight increase in plasma prolactin at 10 and 20 min with a subsequent decrease. Each of the OVX, EP-treated recipients injected with MBH extract from blind-anosmic-pinealectomized rats responded with an obvious increase in plasma prolactin levels within 5 min after injection, followed by a decrease. It was concluded that the MBH of the blind-anosmic rat was high in LRH activity while PIF appeared to predominate over PRF activity. On the other hand, in the MBH of the blind-anosmic-pinealectomized rat, LRH activity was lower while PRF appeared to predominate over PIF activity.

Animals↗
PubMed1975

A counter antigonadotrophic effect of melatonin in male rats.

Blinding and anosmia in male rats is followed by retarded bodily development, reduced weights of the gonads and adnexa, and depressed levels of pituitary luteinizing hormone and prolactin. The effects of dual sensory deprivation are negated, for the most part, by either pinealectomy or the weekly subcutaneous implantation of melatonin (in beeswax). This is the first report that melatonin negates the antigonadotrophic influence of the rat pineal gland.

Adrenal Glands↗
PubMed1988

Possible involvement of the hypothalamic dopaminergic system in the prolactin-inhibitory effects of the pineal gland in blind-anosmic male rats.

The purpose of the present study was to assess whether the pineal-induced suppression of prolactin (PRL) cell activity in blind-anosmic (BA) rats was possibly mediated via the hypothalamic dopaminergic system. Prepubertal male rats were divided into the following groups: sham-operated (Sham), BA and blind-anosmic-pinealectomized (BAP). Animals from each group were sacrificed 1, 4 and 8 weeks after the operations. Blinding and anosmia resulted in pineal-dependent decreases in the weight of the testes, accessory organs and anterior pituitaries at 4 and 8 weeks but not 1 week after the operations. Likewise serum PRL levels were significantly decreased in BA rats at 4 and 8 weeks but this effect was not prevented in BAP rats. Hypothalamic dopamine (DA) turnover in BA rats at 1 week was twice that seen in either the Sham or BAP groups at that time; this effect ended by 4 weeks. There were no effects of any treatment on DA turnover at 8 weeks. Finally, PRL cell sensitivity to DA inhibition was determined by measuring the release of PRL from pituitaries incubated in vitro with either vehicle or 5 x 10(-7) M DA. None of the treatments caused significant alterations in the response to DA, though this must be interpreted with caution since only one dose of DA was used. From these data we conclude that: (1) there is an increase in DA neuron activity that precedes the inhibition of both PRL secretion and the reproductive system in BA rats, and (2) the inhibition of PRL cell activity in these animals is apparently not due to an increase in sensitivity to DA.

Animals↗
PubMed1988

Mode of inheritance in familial cases of primary gonadotropic deficiency.

The mode of inheritance of primary gonadotropic deficiency was studied in 38 children and adolescents. 92% of this population was male with high frequencies of undescended testes (80%) and micropenis (31%). Anosmia was present in 61% of the patients aged more than 5 years and was a frequent genetic marker in the families. Inheritance was matrilineal in 18, X-linked dominant or autosomal dominant in 6. In 13 cases, the transmission was patrilineal and evoked autosomal dominant inheritance. An autosomal recessive transmission was likely in 7 patients. The data agree with the suggestion of multiple modes of inheritance of congenital gonadotropic deficiency, and clearly show the wide range of expressivity of the disorder.

Adolescent↗
PubMed1990

Dermatological signs of nasopharyngeal linguatulosis (halzoun, Marrara syndrome)--the possible role of major basic protein.

Two hours after ingestion of improperly cooked meat a German tourist in Tunisia showed coughing, hoarseness, dysphagia, anosmia, frontal headache and epistaxis. At the same time a papular non-itching exanthema developed. The nasal discharge contained nymphs of Linguatula serrata. Histological examination of the papules revealed tissue eosinophilia and 'flame figures'. Nasopharyngeal and skin signs subsided spontaneously within 10 days. The possible role of major basic protein in the pathogenesis of nasopharyngeal linguatulosis is discussed.

Acute Disease↗