Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “ANOSMIA”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 523 records · Page 29Linked to original sources
PubMed1991

Brain damage caused by hydrogen sulfide: a follow-up study of six patients.

Hydrogen sulfide (H2S) poisoning involves a risk of hypoxic brain damage. Six patients who lost consciousness due to H2S poisoning are described. The symptoms varied from anosmia in the patient with the shortest but highest exposure to delayed neurological deterioration in the patient with the longest exposure. The two patients with the most serious symptoms developed pulmonary edema, which may have prolonged the hypoxia. The patients were reexaminated 5 years or more after the poisoning. The five patients who had been unconscious in H2S atmosphere for from 5 to 15-20 min showed persisting impairment at neurological and neuropsychological re-examination. Memory and motor function were most affected. One patient was seriously demented. Recent reports of large groups of H2S-poisoned workers probably underestimate the risk of sequelae, due to the inclusion of cases with exposure of short duration and lack of follow-up.

Adult↗
PubMed1978

Phenotypic overlap of the BBB and G syndromes.

Three males with similar malformations including hypertelorism, telecanthus, cleft lip and palate, and hypospadias, have been evaluated. One also had a laryngotracheoesophageal cleft and therefore was considered to have the G syndrome. The other two had no stridor, aspiration, or difficulty swallowing, and were considered to have the BBB syndrome. Both disorders are associated with multiple malformations and can be most readily distinguished by the presence of laryngoesophageal abnormalities in the G syndrome and differences in facial features evident later in childhood. The BBB syndrome appears to be inherited as an X-linked disorder with the affected female showing only telecanthus and hypertelorism. The G syndrome exhibits autosomal dominant inheritance with males more severely affected, although a few few females have had serious malformations in addition to telecanthus and hypertelorism. In the family with the G syndrome evaluated for this report, the mother of the affected infant had telecanthus, hypertelorism, and anosmia, the latter a feature not previously noted in this disorder.

Abnormalities, Multiple↗
PubMed1987

Single central maxillary incisor and holoprosencephaly.

A holoprosencephalic child was born to a mother with a single central maxillary incisor. The infant had a median cleft lip, a flat nose with a single nostril, hypotelorism, and normal chromosomes. The head was brachycephalic and small, and computed tomography (CT) of the brain showed semilobar holoprosencephaly. The mother had mild hypotelorism but no anosmia, and her brain CT was normal. She was of normal intelligence and stature. Other relatives did not have single central maxillary incisors, hypotelorism, or oral clefts. Whether the mother's anomaly was a new mutation or had been inherited is unknown. We show the significance of a single central maxillary incisor as an indicator or potential holoprosencephaly in the next generation, even if other relatives are apparently normal.

Abnormalities, Multiple↗
PubMed2003

Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case.

In 1983, Johnson et al. described 16 related individuals with alopecia, anosmia or hyposmia, conductive hearing loss, microtia and/or atresia of the external auditory canal, and hypogonadotrophic hypogonadism inherited in an autosomal dominant pattern. Other less constant manifestations included facial asymmetry, mental retardation, congenital heart defect, cleft palate, and choanal stenosis. An isolated case was reported later (Johnston et al. [1987: Am J Med Genet 26: 925-927]) and thereafter an affected mother and son (Hennekam and Holtus [1993: Am J Med Genet 47: 714-716]). We describe an additional unrelated female patient with features resembling those of the previously reported cases. She presented with intrauterine growth deficiency, microcephaly, alopecia, bilateral microtia with canal atresia, conductive hearing loss, partial left facial palsy, posterior cleft palate, left choanal stenosis, tetralogy of Fallot, developmental delay, and right thumb polydactyly. Because the phenotypic abnormalities in this syndrome affect the brain, facial structures, ectoderm and its derivatives, outflow tract of the heart, and Rathke's pouch derivatives, this has suggested to previous authors etiologic involvement of the ectoderm and neuroectoderm of the first and second branchial arches, Rathke's pouch, and the diencephalon. Microtia with conductive hearing loss differentiates the condition from other ectodermal dysplasias. In the initial report, females appeared somewhat less affected than males, and there was male-to-male transmission. The mother of our patient manifests subtle features, which suggest she may be a mildly affected female. Additionally, there is a family history of early-onset alopecia in the maternal grandfather's relatives.

Abnormalities, Multiple↗
PubMed1984

Mirror movement: application of movement-related cortical potentials.

In a patient with Kallmann's syndrome (hypogonadotropic hypogonadism and anosmia) manifesting mirror movement, cortical potentials associated with unilateral and bilateral simultaneous voluntary middle finger extensions were studied. Premovement negative slope, which has been shown to reflect preparatory excitation of motor cortex corresponding to the voluntary movement, was recorded bilaterally in this patient in spite of intended unilateral hand movement. It is suggested that mirror movement in this particular patient is generated by unintended excitation of the opposite motor cortex.

Adult↗
PubMed1996

Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy.

Wolfram syndrome was originally described as a combination of familial juvenile-onset diabetes mellitus and optic atrophy. Other neurological features subsequently emerged, and "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) became a commonly accepted acronym. Here, we describe 4 further cases from 2 families, in whom there occurred previously unrecognized neurological features, central apnea and neurogenic upper airway collapse, together precipitating primary respiratory failure (fatal in 1 case), startle myoclonus (in 2 unrelated cases), axial rigidity, and Parinaud's syndrome. Magnetic resonance images revealed striking brainstem atrophy affecting, in particular, the pons and midbrain. The mitochondrial DNA from 3 cases (and relatives) showed no evidence of any of the previously reported abnormalities. These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.

Adolescent↗
PubMed2003

Early recognition of newborn goat kids by their mother: I. Nonolfactory discrimination.

Mother sheep and goats develop an early bond with their neonate on the basis of olfactory recognition. We investigated whether goats were also able to show early (<24 hr postpartum) nonolfactory discrimination of their kids, as already reported in sheep. In a first experiment, we found that goats are not able to recognize their kid at 1 m away on the basis of olfactory cues alone. By contrast, they showed a significant preference for their own kid in a two-choice test as early as 4 hr postpartum, and prepartum maternal anosmia did not impede the ability of mothers to show discrimination. We conclude that goats, like sheep, are fully able to discriminate their neonate without the help of olfactory cues very early after parturition. The difference in the early spatial mother-young relationship between the two species due to the different behavior of the young (kids = hiders, lambs = followers), is not associated with marked differences in the dynamics or mechanisms controlling the development of recognition of the neonate by its mother.

Adaptation, Psychological↗
PubMed1995

Three novel aniridia mutations in the human PAX6 gene.

Aniridia (iris hypoplasia) is an autosomal dominant congenital disorder of the eye. Mutations in the human aniridia (PAX6) gene have now been identified in many patients from various ethnic groups. In the study reported here we describe PAX6 mutations in one sporadic and five familial cases with aniridia. Of the four different mutations identified, one was identical to a previously reported mutation (C-->T transition at codon 240), and three were novel: two in the glycine-rich region and one in the proline/serine/threonine-rich (PST) region. One PAX6 mutation found in the PST region was associated with cataracts in an aniridia family. Another splice mutation in the PST domain occurred in an aniridia patient with anosmia (inability to smell). The six new aniridia cases reported here have mutations predicted to generate incomplete PAX6 proteins. These results support the theory that human aniridia is caused by haploinsufficiency of PAX6.

Adult↗
PubMed1992

Ultrastructural histopathology of human olfactory dysfunction.

This paper presents electron-microscopic observations on biopsies of the olfactory mucosae of several classes of patients with smell disorders: 1) patients with loss of smell function following head injury (post-traumatic anosmics or hyposmics); 2) patients with loss of smell function following severe head colds and/or sinus infections (post-viral olfactory dysfunction, or PVOD); and 3) patients that have lacked smell function since birth (congenital anosmics). Of these, the traumatic anosmics' olfactory epithelia were quite disorganized; the orderly arrangement of supporting cells, ciliated olfactory receptor neurons, microvillar cells, and basal cells was disrupted. Although many somata of ciliated olfactory receptors were present, few of their dendrites reached the epithelial surface. The few olfactory vesicles present usually lacked olfactory cilia. The post-viral anosmics, too, had a greatly reduced number of intact ciliated olfactory receptor neurons, and most of those present were aciliate. The post-viral hyposmics had a larger population of intact, ciliated olfactory receptor cells. In the seven cases of congenital anosmia studied, no biopsies of olfactory epithelium were obtained, indicating the olfactory epithelium is either absent--or greatly reduced in area--in these individuals.

Biopsy↗
PubMed1977

Pineal-induced alterations in reproductive function and pituitary prolactin in the female rat: the effects of bilateral superior cervical ganglionectomy and nervi conarii transection.

The reproductive organs of female rats subjected to blinding and and anosmia were hypotrophic while pituitary prolactin stores were markedly depressed in these animals. All of the effects of dual sensory deprivation were reversed by either superior cervical ganglionectomy or nervi conarii transection. It was concluded that both of these surgical procedures were as effective as pinealectomy in reversing the pineal-induced alterations in the reproductive physiology of the blind-anosmic female rat.

Animals↗
PubMed1980

An interaction between the pineal gland and olfactory deprivation in potentiating the effects of melatonin on gonads, accessory sex organs, and prolactin in male rats.

Male rats (25-26 days of age) housed with 14 hours of light per day (lights on 0600--2000 hours) were either olfactory bulbectomized (rendering them anosmic), bulbectomized plus pinealectomized (Pinx), or left intact. On the day following the operations, intact, anosmic, and anosmic-Pinx animals began receiving single, daily afternoon (1700--1800 hours) subcutaneous injections of 50 microgram of melatonin (MEL) for six weeks, while an additional group of intact controls received injections of diluent. At the end of this period, body, anterior pituitary, testicular, and seminal vesicle weights were significantly reduced in intact-MEL-treated animals. Anosmic animals that had been treated with MEL experienced a further, highly significant, 65%, 90%, and 85% depression in testicular, seminal vesicle, and ventral prostate weights, respectively, as compared with intact control and MEL-treated rats. Additionally, both body and anterior pituitary weights were significantly decreased in MEL-treated, anosmic rats. Anosmic-Pinx rats treated with MEL had organ and body weights that were intermediate between those of intact-MEL and anosmic-MEL-treated animals. Pituitary and serum levels of prolactin (Prl) were significantly lower in anosmic-MEL-treated rats than in intact-MEL-treated groups. Similarly, Prl levels were depressed in the anosmic-Pinx rats treated with MEL; however, serum Prl was not statistically lower than in intact or intact-MEL-treated animals. These results indicate that anosmic male rats have an increased sensitivity to antigonadotrophic and Prl-inhibitory effects of MEL. Futhermore, the data suggest that the presence of the pineal gland in anosmic rats is important in permitting anosmia maximally to sensitize the neuroendocrine-reproductive axis to the antigonadotrophic effects of exogenously administered MEL.

Animals↗
PubMed1983

Sarcoidosis of the nose and paranasal sinuses.

Sarcoidosis is a chronic systemic disease of unknown etiology characterized by non-caseating granulomatous inflammation of various organs. The records of 2319 patients with the diagnosis of sarcoidosis were reviewed to determine the incidence of nasal involvement. Seventeen patients or approximately 1% of the patients with sarcoidosis had histologically proven nasal mucosa involvement. These patients had symptoms of nasal crusting, congestion, epistaxis, pain, or anosmia. The clinical findings in these patients included friable nasal mucosa, nasal polyps, or a characteristic submucosal nodularity. Most patients also had abnormal sinus roentgenograms with either thickening of the sinus mucosa or opacification of the sinuses. Biopsy of the nasal mucosa shows typical non-caseating granulomas, but care must be exercised to exclude other causes of granulomatous inflammation of the nasal mucosa including tuberculosis, fungal infections, and other idiopathic granulomatous diseases such as Wegener's granulomatosis and Churg-Strauss syndrome. The treatment of nasal sarcoidosis has consisted of systemic steroids and in some cases topical beclomethasone dipropionate.

Adolescent↗
PubMed2003

Olfactory bulb in multiple system atrophy.

Olfactory dysfunction is a characteristic clinical sign in Parkinson's disease (PD); it is also present in multiple system atrophy (MSA). The pathological basis of hyposmia or anosmia in PD is well known: the olfactory bulb (OB) contains numerous Lewy bodies and severe neuronal loss is present in the anterior olfactory nucleus (AON). We established that glial cytoplasmic inclusions (GCIs) are present in all the OBs from MSA cases. Their presence in the OB is diagnostic for MSA. Additionally, neuronal loss is present in the AON in MSA. These pathological changes might be responsible for the olfactory dysfunction seen in MSA.

Aged↗
PubMed2002

Maternal olfaction differentially modulates oxytocin and prolactin release during suckling in goats.

In postparturient goats, olfactory recognition of the young allows the establishment of a selective bond between the mother and her kids. Once this bond is formed, the mother rejects alien young that attempt to suckle. We tested whether the development of the maternal selective bond in goats modulates prolactin (PRL) and oxytocin (OT) release in response to suckling. On day 37 of lactation, serial blood samples were taken during nursing of the mother's own or alien kid(s) in 10 intact/selective goats and in 10 goats rendered anosmic/nonselective through prepartum peripheral ZnSO(4) irrigation. Spontaneous nursing behavior was also studied weekly from day 7 to 30 of lactation, at which time milk production was measured. Maternal selectivity had no effect on PRL release, in contrast to OT release, which was significantly affected by this factor. Intact mothers released OT only when nursing their own kids, but not with aliens, while anosmic/nonselective dams showed an increase in OT levels regardless of the identity of the kids. In addition to these effects on maternal selectivity, the amplitude of the response of both hormones was lower in anosmic mothers than in intact mothers. Finally, nursing behavior and milk production were not significantly affected by anosmia. We conclude that maternal selective behavior in goats, which relies on the individual olfactory signature of the kid, modulates the OT, but not the PRL, response to suckling. In addition, perception of the smell of the young appears to have a general facilitatory effect, independent of the kid's identity, on the release of both hormones.

Animals↗
PubMed1998

A novel aminoterminal mutation in the KAL-1 gene in a large pedigree with X-linked Kallmann syndrome.

Kallmann syndrome is characterized by hypogonadotropic hypogonadism and anosmia. Autosomal dominant, autosomal recessive, and X-linked patterns of transmission have been described. The X-linked form of Kallmann syndrome (XLKS) is the least common of the three modes of inheritance and is caused by mutations in the putative cell adhesion protein, KAL-1. In a large pedigree with XLKS, direct sequencing of the KAL-1 gene revealed a duplication of 11 base pairs in exon 1, resulting in a frameshift and a premature stop at codon 34 of the 680 amino acid protein. The clinical features of the affected individuals in this pedigree provide further evidence in support of the idea that XLKS is associated with neurologic features that are not seen in other forms of the syndrome.

Female↗
PubMed1984

Traumatic, spontaneous and postoperative CSF rhinorrhea.

CSF fistulas are a major complication of head injury but also occur spontaneously or symptomatically in connection with tumours of the skull base, empty sella syndrome, ethmoidal encephalomyelocele, intracranial hypertension or postoperatively in connection with operations on skull base tumours or ENT operations. Their main risk is the possibility of meningitis. The main clinical symptom is CSF leakage from the nose, but meningitis may be the first manifestation. Isotope cisternography and metrizamide CT cisternography are the most important methods for precise localization, sometimes also for verification of a suspected fistula. Most traumatic CSF fistulas of the frontal and ethmoidal region have to be treated operatively. The method of choice is the transfrontal approach and the closure of the fistula opening using a pedicled pericranial flap or fascia lata graft. Most sphenoidal fistulas have to be treated by packing the sphenoidal sinus with muscle. The treatment methods of the rare spontaneous and symptomatic CSF fistulas are also described. The results of operative treatment are satisfactory. About 6% recurrences, which as a rule can be cured by reoperation, and a mortality rate of about 1-3% seem to be an acceptable price for prevention of an otherwise unavoidable and oftenly deadly meningitis. Future efforts are necessary to improve the operative technique in order to reduce the incidence of anosmia. Our descriptions and advice are based not only on literature reports but also on our own experiences with a combined material of 237 cases operated on for rhinorrhea.

Adult↗
PubMed1988

Management and surgical outcome of suprasellar meningiomas.

The authors analyse 22 cases of suprasellar meningiomas, drawing attention to factors influencing on the surgical outcome. In all but one case, symptomatology began with progressive visual failure in one eye. Bilateral anosmia was noted in 4 patients with large tumour. Mental disorders were conspicuous in 5 cases and 3 patients suffered from epilepsy. Headache was severe in 5 cases. Endrocrinological disorders were observed in 3 patients. The sella turcica was of normal shape in all cases. Marked hyperostosis of the planum or tuberculum existed in 7 cases. The tumour was heavy-calcified in 2 cases. CT scanning showed everytime a marked enhancement of the tumour and in 4 cases, a large hypodense area surrounded the tumour. The patients were operated on through a bifrontal approach or a unilateral frontal flap. A partial anterior frontal lobectomy was regularly performed on one side. While the tumour is piecemeal exacavated, the dural attachment at the base is reached as quickly as possible. Complications consisted in rhinorrhea of CSF in 2 cases, once in a transitory diabetes insipidus and in a secondary hydrocephalus. Post-operative mortality remains high. Among the eleven cases of large tumours, a direct postoperative death occurred, due to a severe arterial bleeding. Two other patients died 4 and 6 weeks respectively after operation. An other patient died 8 years after operation, from meningitis. Among the 5 cases of medium-sized tumours, one post-operative death occurred in a young female, 30 of age, following urinary infection by Klebsiella, complicated by toxicemia.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1991

Kallmann's syndrome and chemosensory evoked potentials.

Kallmann's syndrome is generally assessed by history and subjective tests of olfactory function. In this study three patients suffering from Kallmann's syndrome were investigated with more objective techniques, including the recording of chemosensory evoked potentials (CSEPs). After testing olfactory function by means of a simple odor identification test, anosmia was confirmed in only one patient, since the other two patients were able to distinguish between several odorants. However, investigations in which CSEPs were employed indicated that all three patients had complete loss of their olfaction as well as hypersensitivity of the trigeminal nerve. These findings prove the usefulness of CSEPs in clinical investigations of the sense of smell.

Adolescent↗