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PubMed1999

Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature.

A sibship is described where the brother and a sister both have Kallmann's syndrome (anosmia and deficiency of gonadotrophin releasing hormone) and the woman also has streak ovaries. Although there are several conditions that may occur with Kallmann's syndrome, there are no known reports of ovarian dysgenesis being associated with this disorder. Cytogenetic analysis showed no rearrangement or major deletions of the chromosomes. Linkage analysis using informative microsatellite markers predicts that a gene other than KAL1 (at Xp22.3) is implicated in the Kallmann's syndrome manifesting concurrently with ovarian dysgenesis found in this family.

Adult↗

PubMed1977

Sensory factors which affect the acceptance of raw and heated defatted soybeans by rats.

The acceptability of heated soybean meal (HS) compared to raw soybean flakes (RS) was studied by means of diet selection in free choice situations. The selection by rats of diets containing HS over those containing RS was shown in short- and long-term preference tests. Texture did not seem to be an important factor in the acceptability difference between HS and RS. Rats selected a less nutritious diet containing RS + sodium saccharin (appealing taste) over a diet containing HS + sucrose octaacetate (aversive taste) for an initial 6 to 7 days, suggesting that post-ingestional factors did not markedly affect the acceptability during that period. However, after this initial period, the rats selected the diet of higher nutritive value, even though it had added sucrose octaacetate. Preference tests before and after producing anosmia indicated that RS contains an aversive odor(s) which could be removed by vacuum treatment. Heated soybean meal was found to contain an appealing taste stimulus (i) which could also be removed by vacuum treatment.

Animals↗

PubMed1998

Proteinuria, hypertension and chronic renal failure in X-linked Kallmann's syndrome, a defined genetic cause of solitary functioning kidney.

BACKGROUND: Anosmia and hypogonadotrophic hypogonadism are the classic features of X-linked Kallmann's syndrome, a disorder caused by mutations of KAL, a gene expressed during kidney and brain development. About a third of patients have a solitary functioning kidney, but little is known about their renal morbidity. METHODS: We studied seven patients aged 22-35 years with X-linked Kallmann's syndrome and a solitary functioning kidney. RESULTS: Two patients developed significant proteinuria associated with mild to moderate arterial hypertension in the second to third decades of life. In one, proteinuria and renal impairment preceded the appearance of hypertension, and the disorder progressed to chronic renal failure. The remaining five patients had normal plasma creatinine concentrations and no significant proteinuria although four had borderline systolic and/or diastolic hypertension. In two sets of patients from the same kindreds, there was a striking discordance for the occurrence of renal morbidity. CONCLUSIONS: All patients with X-linked Kallmann's syndrome should be screened for renal malformations, and those with solitary kidneys require life-long follow-up to detect hypertension, proteinuria and renal failure.

Adult↗

PubMed2001

Multicystic dysplastic kidney and Kallmann's syndrome: a new association?

BACKGROUND: Kallmann's syndrome is characterized by anosmia and hypogonadotrophic hypogonadism. Radiographic studies of teenagers and older subjects with the X-linked form of the syndrome have shown that up to 40% have an absent kidney unilaterally. Although this has been attributed to renal "agenesis", a condition in which the kidney fails to form, little is known about the appearance of the developing urinary tract either pre- or post-natally in individuals with Kallmann's syndrome. METHODS: We describe two brothers who had features of Kallmann's syndrome, most probably of the X-linked variety, who both had a major urinary-tract malformation detected before birth. RESULTS: The brothers were found to have unilateral multicystic dysplastic kidneys on routine antenatal ultrasound scanning and both underwent surgical nephrectomy of these organs post-natally. Immunohistochemical studies on the younger sibling revealed hyperproliferative dysplastic kidney tubules which overexpressed PAX2, a potentially oncogenic transcription factor, and BCL2, a cell-survival factor, surrounded by metaplastic, alpha smooth-muscle actin-positive stroma: similar patterns have been observed in patients with non-syndromic multicystic dysplastic kidneys. CONCLUSIONS: Our results describe a new type of urinary-tract malformation associated with Kallmann's syndrome. However, since multicystic kidneys tend to involute, only when more Kallmann's syndrome patients are screened in utero or in early childhood using structural renal scans, will it be possible to establish whether multicystic kidney disease is a bona-fide part of the syndrome.

Child, Preschool↗

PubMed1999

Is Parkinson's disease a primary olfactory disorder?

It has been known for over 30 years that olfactory function is disordered in idiopathic Parkinson's disease (IPD). The severity and partial specificity of anosmia was not realized until recently, with the advent of more detailed analysis and sophisticated measurement. The olfactory vector hypothesis suggests that the causative agent for IPD enters the brain via the nasal route, but the reason for olfactory dysfunction may be more subtle. Evidence for olfactory disturbance is reviewed from pathological, psychological, neurophysiological and genetic stand-points. It is proposed that the initial causative event in IPD may start in the rhinencephalon (olfactory brain) prior to damage in the basal ganglia.

Aging↗

PubMed1987

Pinealectomy or superior cervical ganglionectomy do not alter reproduction in the wolf (Canis lupus).

Twelve wolves (6 male and 6 female) were used to study the role of the pineal in photoperiodic mediation of seasonal reproduction. Eight wolves were pinealectomized (PNX) or sham-pinealectomized (S-PNX) at 5 mo of age, and 4 were superior cervical ganglionectomized (SCGX) at 16 mo of age (2 males and 2 females per treatment). All attained puberty at the species-typical time, during their second breeding season, except 2 SCGX males that did not survive. Reproductive cycles of an additional male that was SCGX as an adult and the PNX and S-PNX wolves, followed for a minimum of 3 yr, did not differ from each other or from those of unoperated colony wolves on measures of serum testosterone and luteinizing hormone for males, or of serum estradiol and progesterone for females. Nor was the range of dates for ovulation different for treated vs. untreated females. Surgical transection of the olfactory tracts of 1 male and 1 female PNX wolf, inducing anosmia to control for the possibility of pheromonally synchronized cycles, also failed to alter the seasonality of these reproductive parameters. These results do not conform to the model of pineal mediation of sexual cycles for photoperiod-sensitive species. In spite of evidence for photoperiod influence, the wolf apparently relies on a system other than the pineal for seasonal control of reproduction.

Animals↗

PubMed2002

Taste and olfactory disturbances after upper and middle third facial fractures: a preliminary study.

To estimate smell and taste after traumatic disturbances, the authors questioned a sample of 92 patients who underwent surgical treatment for upper third and/or middle third facial fractures between January 1, 1988, and May 31, 1996, at the Department of Maxillofacial Surgery, University of Rome "La Sapienza," Italy. A total of 86 patients included in the study had a facial fracture sustained during a motor vehicle accident. Twenty-nine patients reported smell and/or taste after the traumatic disturbance. Of these 29 patients, 8 patients had hyposmia and/or anosmia without taste deficit, 10 patients had taste disturbances without smell loss, and 11 patients noted disturbance in both smell and taste. The authors encountered posttraumatic smell disturbances in 19 patients in their sample. Nasozygomatic-Le Fort fractures, fronto-orbital fractures, and pure Le Fort fractures were found to determine posttraumatic smell disturbances in these 19 patients. Nasal fractures, nasoorbital-ethmoidal fractures, ethmoidal fractures, frontal-Le Fort fractures, and nasal-Le Fort fractures did not determine any olfactory dysfunction. Posttraumatic hypogeusia and ageusia were found in 21 patients and was caused by nasozygomatic-Le Fort fractures, fronto-orbital fractures, and pure Le Fort fractures. The authors did not find any taste deficits after patients sustained other kinds of facial fractures. In the 11 patients observed, disturbances in both smell and taste were noted. Nasozygomatic-Le Fort fracture was the most common in these 11 patients. At 5 years' of follow-up, the results indicate that hypogeusia and hyposmia are connected with the etiology of fracture, the violence of the trauma, and the involvement of specific facial bone regions.

Accidents, Traffic↗

PubMed1997

Rehabilitation of patients with extended facial and craniofacial resection.

Surgery of benign and malignant disease of the nose and sinuses can result in disfigurement and disability. Many patients have speech, mastication, and swallowing problems, anosmia, and pain. If the orbit is retained, visual loss, dystopia, diplopia, and epiphora can occur. This study reviews the senior author's experience with 34 patients over the last 18 years. Group and case analyses demonstrate that in patients with cancer, the eye can be preserved if one anatomical boundary is retained beyond a negative frozen section margin. Dystopia can be prevented by reconstruction of the floor with skin and fascial grafts or flaps. Epiphora can be reduced by repair of the medial canthus and dacryocystorhinostomy. Evidence is presented for prosthetic management of speech and swallowing and restoration of cheek contour. Case examples are used to illustrate the surgical techniques.

Adolescent↗

PubMed1999

Early outcome and complications of the extended subcranial approach to the anterior skull base.

OBJECTIVES: To present the technique of the extended subcranial approach to the anterior skull base and to review the results in 55 patients who underwent the procedure. STUDY DESIGN: Retrospective review of the records of 55 patients who underwent the extended subcranial approach to the anterior skull base between 1994 and 1998 for the treatment of various neoplasms originating in the nasal cavity, nasopharynx, paranasal sinuses, orbit, or meninges, as well as for the repair of complex craniofacial trauma and/or cerebrospinal fluid (CSF) leak. Preoperative patient evaluation and the surgical technique are also reviewed. METHODS: Patient records were retrospectively reviewed and tabulated for age, sex, and indications for procedure, with special focus on early outcome and complications. RESULTS: Twenty-six patients underwent oncologic resections, 22 patients had reduction of complex fronto-naso-orbital and skull base fractures, and seven patients had repair of CSF leak. Significant complications in the oncologic group consisted of one hematoma requiring needle aspiration and two cases of temporary nontension pneumocephalus. In the fracture group, one patient died because of extensive intracerebral damage and multiorgan failure, and one patient had nontension pneumocephalus coupled with CSF leakage and one patient had temporary nontension pneumocephalus. The most common late complication in all three groups was anosmia. CONCLUSIONS: Based on their review, the authors conclude that the extended subcranial approach to the anterior skull base is a safe, versatile, and effective procedure for the surgical treatment of various pathological conditions involving the anterior skull base.

Adolescent↗

PubMed2000

Assessing olfactory function in laryngectomees using the Sniffin'Sticks test battery and chemosensory evoked potentials.

OBJECTIVES/HYPOTHESIS: Laryngectomees are often considered to be completely anosmic. The aim of this study was to determine whether anosmia in laryngectomees reflects diminished transport of odorants to the olfactory epithelium or olfactory epithelial damage. STUDY DESIGN: Twenty-five laryngectomees were examined psychophysically using the Sniffin'Sticks test battery. All patients rated the degree of their subjectively perceived deficit on a rating scale. Chemosensory evoked potentials were also recorded in 11 of 25 patients. RESULTS: Sixteen patients complained very little about their smell deficit, even though the psychophysical testing found 18 patients to be anosmic and 7 hyposmic. Olfactory potentials could be recorded in only 7 of the 11 patients who received this evaluation, despite the fact that all 11 perceived, at least vaguely, the olfactory stimulus, H2S, during the recording sessions. No meaningful correlation between the psychophysical and electrophysiological data was observed. CONCLUSIONS: The psychophysical data revealed the laryngectomees to be either functionally anosmic or hyposmic. The olfactory evoked potential data suggested that at least in two thirds of the laryngectomized patients the olfactory system had some function, even up to 22 years after surgery. Because patients in everyday situations find ways to bring odorants to the olfactory mucosa, the low number of complaints about subjectively perceived deficits is reasonable.

Adult↗

PubMed2004

Pathology of the olfactory mucosa: implications for the treatment of olfactory dysfunction.

OBJECTIVE: The pathology of the olfactory mucosa is poorly understood; however, most cases of hyposmia and anosmia appear to be associated with a decline in the number of functioning mature olfactory sensory neurons (OSNs). Under normal conditions, OSNs undergo apoptotic cell death at a baseline rate likely secondary to their exposed location in the nose. Regeneration of mature OSNs from precursors in the epithelium allows the animal to maintain an adequate number of neurons necessary for olfactory sensation. In many cases of olfactory dysfunction, this balance is apparently disturbed, with a net loss of OSNs. The current study will examine normal and diseased olfactory tissue for the presence of data demonstrating that the preferred mechanism of OSN cell death is apoptotic in both health and disease. The potential therapeutic implications will be discussed. STUDY DESIGN: Histologic analysis of human and animal olfactory tissue. METHODS: Normal and diseased human and animal olfactory mucosa were assessed for immunohistochemical evidence of apoptosis. RESULTS: Increased activity of the apoptotic effector enzyme caspase-3 was demonstrated in diseased olfactory mucosa in comparison with normal controls. CONCLUSION: These results indicate that a common pathway may mediate OSN cell death from a diverse set of pathologic insults including aging, trauma, and sinusitis. Interference with this pathway of cell death is currently the subject of intense pharmacotherapeutic research for the management of stroke and meningitis. These drugs may ultimately prove useful in the treatment of clinical olfactory dysfunction.

Aging↗

PubMed1999

Preservation of the olfactory tract in bifrontal craniotomy for various lesions of the anterior cranial fossa.

OBJECTIVE: Preservation of the olfactory tract during use of the bifrontal approach for the treatment of lesions located in the frontal cranial base and the supra- and parasellar regions has not been previously investigated. METHODS: In our study, 12 patients underwent surgery, via the basal subfrontal route, for treatment of various lesions. All patients were observed prospectively, and olfactometry was performed pre- and postoperatively by an independent otorhinolaryngologist. RESULTS: We obtained complete preservation of the olfactory tracts and normal postoperative olfaction in all 12 cases. CONCLUSION: The bifrontal approach yields a bilateral wide operative field with excellent orientation and views of important structures. The shortcomings of this method, i.e., damage to the olfactory tracts and postoperative anosmia, can be overcome.

Adolescent↗

PubMed2006

Sinonasal involvement in sarcoidosis: a case-control study of 20 patients.

We conducted a retrospective single-center study to describe the clinical features of sinonasal sarcoidosis (SNS) and to determine whether SNS is associated with a particular clinical phenotype of sarcoidosis. Twenty patients with histologically proven SNS (men/women, 7/13; mean age, 32 +/- 9 yr) were compared with control patients with sarcoid but without sinonasal (SN) involvement. Each patient was matched with 2 controls for the date of admittance in our institution. SN involvement occurred in the course of previously known sarcoidosis in 8 patients, whereas it preceded disease diagnosis in 12 patients. Among these 12 patients, 4 initially presented with strictly isolated SNS and 8 had other associated signs related to sarcoidosis. The most common symptoms were stuffiness (90%), anosmia (70%), and rhinorrhea (70%). Lupus pernio was frequent (50%). Local examination was constantly abnormal and showed hypertrophy (75%) and purplish coloring of the nasal mucosa with granulations (50%) on the septum and/or inferior turbinates. Computed tomography scans showed medial lytic lesions, mainly of the septum and/or the turbinates in about half the cases. All patients had negative antineutrophil cytoplasmic antibodies. Patients with SNS had significantly more frequent and severe involvement of vital organs than controls, had a longer history of sarcoidosis, and required systemic treatment more frequently (100% vs. 57.7%, p < 0.001) and for a longer time (78 +/- 42 mo vs. 29 +/- 18 mo, p < 0.0001). Corticosteroids maintenance dosage was high (10.5 +/- 6 mg daily) and mainly depended on SN involvement. Although rare, SN involvement is a severe and recalcitrant manifestation of sarcoidosis representing a therapeutic challenge.

Adult↗

PubMed2004

Treatment of olfactory dysfunction, II: studies with minocycline.

OBJECTIVES/HYPOTHESIS: The treatment of anosmia has changed minimally since the early 1970s, despite dramatic advances in the understanding of the molecular biology of olfaction. Recent studies from the authors' laboratory have suggested that most common causes of clinical olfactory dysfunction, including rhinosinusitis, appear to be associated with increased apoptotic death of olfactory sensory neurons. This appears to result in a decline in the number of functioning mature olfactory sensory neurons, despite the capacity of the olfactory epithelium for regeneration. The current study evaluated the ability of the antibiotic minocycline to inhibit olfactory sensory neuron apoptosis. This drug is known to inhibit apoptosis separate from its anti-infective properties. Olfactory sensory neuron apoptosis was triggered by surgical deafferentation ("bulbectomy"), the standard experimental model. Earlier studies have indicated that bulbectomy and sinusitis invoke similar proteolytic enzyme cascades in olfactory sensory neurons. STUDY DESIGN: Histological analysis of animal olfactory tissue. METHODS: Mice underwent unilateral olfactory bulbectomy to induce apoptotic olfactory sensory neuron death, with and without 45 mg/kg intraperitoneal minocycline given 12 hours before surgery and every 12 hours until death. Mice were killed at 2 and 4 days after bulbectomy and assessed for activation of capsase-3 and olfactory sensory neuron survival by immunohistochemical analysis. RESULTS: Minocycline resulted in partial suppression of cell death at 2 days after surgery when compared with untreated animals. CONCLUSION: Minocycline inhibits olfactory sensory neuron death in the face of a potent pro-apoptotic stimulus. This drug is well tolerated and is currently undergoing human trials for the management of a variety of neurological disorders associated with apoptosis. The current results suggest that minocycline may be efficacious in the management of peripheral olfactory loss as well.

Animals↗

PubMed2006

Clinical significance of results from olfactory testing.

BACKGROUND: Although widely used in healthy subjects and patients with olfactory loss, the significance of changes of scores from validated olfactory tests is unknown. AIM AND METHODS: The aim of the present study was to relate the self-assigned changes of olfactory function in terms of "better," "unchanged," and "worse" in patients with smell disorders with the results from olfactory testing by means of a validated test set. Olfactory function of 83 anosmic or hyposmic patients (40 women, 43 men; age 12-84 yr) was tested on two occasions (mean interval 136 days, minimum 7 days, maximum 6.7 yr). Olfactory function was assessed using a validated technique ("Sniffin' Sticks"). This test consists of three subtests, one for odor threshold (T), odor discrimination (D), and odor identification (I), with possible results ranging up to 16 points each. From the sum of the results from the three subtests a composite "TDI" score was obtained. RESULTS: Forty-four patients indicated an improvement of olfactory function, whereas 39 patients reported no change. No subject reported deterioration of olfactory sensitivity. Subjects assigned to group BETTER had higher TDI scores in the second olfactory tests than subjects assigned to the group UNCHANGED, both in absolute terms and as compared with the first olfactory test (effect "test occasion" by "self-assessed improvement," P < .001). There was no significant difference between groups with respect to age and sex (P = .99 and .84, respectively). Logistic regression showed that more than 60% of the subjects reported an improvement of olfactory sensitivity when the TDI score increased by 5.5 points. CONCLUSION: We show that there is a statistically significant relation between measured and perceived improvement of olfactory function in patients who first presented with the diagnosis of anosmia or hyposmia. The results indicate that improved olfactory function in patients with olfactory deficiency is perceived as such in everyday life and is quantitatively related to an improvement in the composite TDI score of the "Sniffin' Sticks" olfactory test battery. This is the basis for the application of a specific therapy for olfactory loss because of a possible gain in quality of life for the patients.

Adolescent↗

PubMed1992

Genetic and developmental factors in the olfactory response of Drosophila melanogaster larvae to alcohols.

Olfactory responses of Drosophila melanogaster larvae to a homologous series of primary alcohols (methanol ... decanol) were tested. Alcohols at either extreme of the chain lengths studied (methanol, ethanol and decanol) evoked no significant responses. Heptanol and nonanol both produced dose-independent responses, larvae being attracted to heptanol and repulsed by nonanol. The remaining alcohols elicited dose-related attractive responses. Responses to hexanol and nonanol decline with increasing larval age. Genetic differences were found for the response to heptanol, with larvae from a Japanese strain, Katsunuma, being indifferent to this substance. Chromosome exchange revealed that a major factor involved in the response to heptanol is located on chromosome II; factors on chromosome III quantitatively modulate this response. Three mutant strains were isolated following EMS mutagenesis of chromosome III. These three strains, IndifferentA, IndifferentB and IndifferentC, show incomplete or total anosmia when stimulated with nonanol. Adult flies from these strains show similar effects. IndifferenB and C strains are dominant over the Canton-S control strain; the IndifferentA strain shows semi-dominance. Results are discussed in the light of the ecology of Drosophila larvae and the relation between olfactory stimulus and receptor conformation and number.

Alcohols↗

PubMed1989

Pituitary function in isolated gonadotrophin deficiency.

Hypothalamic-pituitary function was assessed in 24 individuals with isolated gonadotrophin deficiency (IGD). Thirteen had normal olfaction (Group I) while 11 (Group II) had anosmia (Kallmann's syndrome). In response to a 10 micrograms intravenous (i.v.) bolus of GnRH, the minimal dose required to evoke a consistent gonadotrophin response in normal subjects, the patients responded with significant LH and FSH increases over baseline (P less than 0.01). In Group II patients, large doses (150 micrograms) of GnRH, which elicit maximal release of gonadotrophin in normal subjects did not increase gonadotrophin release beyond that produced by a 10 micrograms bolus. In response to two 10 micrograms GnRH doses, at times 0 and 120 min, the IGD patients responded with similar LH increases to both boluses (both P less than 0.01 compared to baseline). The maximal PRL responses to arginine infusion and to TRH in the male patients were similar to those of normal males. However, in the IGD females, the PRL response to TRH was less than in normal females. The TSH responses to TRH in IGD males and females were similar to each other and similar to normal. The IGD male GH response to arginine infusion was comparable to that in normal males. We conclude that (1) IGD patients appear to retain minimal endogenous GnRH secretion so that the IGD pituitary responds to a minimal dose of GnRH without priming; (2) IGD is a heterogeneous syndrome in which affected individuals with and without normal olfaction represent parts of the spectrum of the same disease; and (3) except for the PRL response in females, the PRL, TSH and GH responses demonstrate that the IGD pituitaries are largely intact.

Adolescent↗

PubMed1995

Hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis, and renal malformation syndrome.

OBJECTIVE: The aim of this study was the endocrinological, enzymatic, and genetic evaluation of a family with a complex syndrome associating hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis and renal malformation. DESIGN: Hypothalamic-pituitary-testicular function, olfaction, steroid sulphatase activity, and morphological renal studies were assessed. DNA molecular analyses were carried out in all the patients. PATIENTS: Two brothers and their maternal uncle showed the clinical picture of congenital ichthyosis, hypogonadism, hyposmia and unilateral renal maldevelopment. MEASUREMENTS: LH and FSH were determined by RIA basally and after GnRH stimulation, and the test repeated after a period of GnRH priming. Testosterone response to hCG was measured. Arylsulphatase C assay was performed as a measure of steroid sulphatase activity. DNA amplification analysis and Southern blot analysis of four Xp22.3 loci were performed. RESULTS: Low levels of gonadotophins, basally and after acute GnRH, increased clearly after GnRH priming. Low testosterone levels increased promptly after hCG. Subnormal levels of arylsulphatase C were detected. Hyposmia and renal hypoplasia or aplasia were demonstrated. A large Xp 22.3 deletion including the genes responsible for X-linked ichthyosis (steroid sulphatase deficiency) and Kallmann syndrome was demonstrated. CONCLUSIONS: The absence of the gene encoding steroid sulphatase accounts for the X-linked ichthyosis in these patients, whereas the absence of the Kallmann syndrome gene accounts for hypogonadism, anosmia and for the single kidney found in two of the three patients.

Adolescent↗