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At least 865 records · Page 48Linked to original sources
PubMed1999

[Genetic anomalies of the gonadotropic axis].

Some forms of isolated hypogonadotropic hypogonadism are caused by mutations of the GnRH receptor gene. These mutations lead to inactivation of the receptor and are recessive. A unique disease that associates hypogonadotropic hypogonadism and congenital hyperplasia is caused by mutations in the DAX-1 gene, situated on chromosome X. The pathogenesis to these endocrine defects remains now elusive. Kallmann syndrome represents the association of hypogonadotropic hypogonadism due to GnRH deficiency, and anosmia. Additional developmental anomalies can be present. Three modes of inheritance have been described: X-linked, autosomal recessive and autosomal dominant. The X-linked KAL-1 gene has been cloned. It encodes an extracellular matrix protein, anosmin-1, the study of which should lead to a better understanding of this developmental disease.

Female↗
PubMed1999

Twenty-three cases of atrophic rhinitis treated by deep puncture at three points in the nasal region.

Atrophic rhinitis is a disease which manifests itself mainly by anosmia due to dryness and atrophy of the nasal mucosa. There is no specific therapy for the disease at present. In the past few years, 23 cases of atrophic rhinitis were treated mainly by deep puncture at three points in the nasal region with satisfactory results. In order to find out the functional changes of the nasal mucosa, the mucociliary transport rate (MTR), surface temperature of the conchal mucosa, acid-base scale of nasal secretion, and volume of nasal secretion were determined before and after the treatment.

Acupuncture Points↗
PubMed1999

[Polyposis nasi--effective treatment without operation? Broad etiological spectrum, individual therapy].

Various factors are thought to be involved in the etiology and pathogenesis of nasal polyps. The clinical symptoms include nasal obstruction, hyposmia or anosmia and recurrent sinusitis. At the cellular level eosinophilic granulocytes appear to have an important role to play, the growth, differentiation and degranulation of which is apparently controlled by interleukin 5. In the present study, practically relevant aspects of the pathophysiology, diagnosis, treatment and diagnostic differentiation of the various types of polyps are discussed, with the latter point also being examined for its importance with regard to therapeutic consequences.

Diagnosis, Differential↗
PubMed2000

[Human olfactory mucosa biopsy with endoscopic technique: clinical and structural observations on neurosensory epithelium rearrangement].

Optical and electron microscopy have been widely used to study the structural features of olfactory epithelium in several Vertebrate species. To date, however, understanding of histopathological alterations in the human olfactory neuroepithelium has been quite limited due to the difficulty in obtaining well preserved, intact fragments of mucosa. The recent introduction of endoscopic biopsy techniques has made it possible to analyze this epithelium in greater detail. In the present work, endoscopic biopsy has been performed on samples from 10 rhinologically healthy subjects. The technique used proved quite simple and did not present any risks or complications. Moreover, all samples were well preserved, as confirmed by histology. In addition, the histological pictures suggest that normal rearrangement of neuroepithelium is not an uniform process but takes place following a zone pattern with distinct dynamics between neurosensorial and support cells. Greater diffusion of this technique would not only make it possible to use different techniques to gain more detailed knowledge of tissue structure, ultrastructure and dynamics in human neuroepithelium, but it would also provide improved diagnostic and forensic evaluation in cases of anosmia, disosmia and hyposmia.

Adult↗
PubMed2000

[Frontoethmoidal meningoencephaloceles].

Frontoethmoidal meningoencephalocele is a rare congenital disease where intracranial masses protrudes through a midline defect at foramen coecum from the anterior cranial fossa into the facial skeleton. The patient presents at birth with a soft-tissue swelling at the nasal bridge. In the majority of cases, the cele is completely covered by skin. The face is elongated, the nasal bridge is broad, the upper part of the nose is long, and the patients have telecanthus. Frequently, the patients have a normal psychomotor development, but may have intracerebral malformations and a shunt dependent hydrocephalus. Spinal fluid leakage may result in meningitis. Anosmia is infrequent. The patients may have a wide range of ophthalmological problems. Newborns with meningoencephalocele should be examined by a neurosurgeon. The investigation and work-up commences with a multidisciplinary approach. We present two patients with meningoencephaloceles.

Child↗
PubMed2000

[A case of olfactory neuroblastoma with intracranial extension and distant metastasis].

Olfactory neuroblastoma is a rare tumor originating in the upper nasal cavity. It rarely extends intracranially. We report a clinical case of olfactory neuroblastoma with intracranial extension and distant metastasis. A 35-year-old man complained of nasal stuffiness and bleeding, headache and vomiting. Neurological examination showed anosmia and papilledema. MRI showed a huge mass that occupied the right nasal and paranasal cavities, and extended into the right frontal base. The tumor was removed totally and was histologically diagnosed as olfactory neuroblastoma. About two months after surgery, however, MRI demonstrated a rapid recurrence of the tumor in the nasal and paranasal cavities and the frontal lobe. Metastatic lesions were also seen in the right cervical lymph nodes. Chemotherapy was administered using cisplatin and etoposide. The tumor in the frontal lobe shrunk markedly but the other lesion persisted. Whole brain irradiation and local irradiation of the cervical lymph nodes were performed. The tumors became smaller but did not disappear. MRI demonstrated spinal dissemination. Irradiation of the whole spinal cord was performed. The metastatic lesions disappeared. The patient was discharged without neurological deficits, but died of pneumonia 15 months after surgery. Olfactory neuroblastoma is a slow-growing tumor and is highly radiosensitive, but it rarely extends or develops multiple distant metastases and seldom shows a short survival time, as in our case. A review of the literature documented responses in patients treated with a cisplatin-based drug combination. We recommend systemic control using cisplatin-based chemotherapy in addition to irradiation to prevent local recurrence in cases of advanced or metastatic olfactory neuroblastoma.

Adult↗
PubMed2000

[The subcranial approach to the anterior skull base. Retrospective study of 75 cases].

We reviewed the cases of 75 patients who underwent an extended subcranial approach to the anterior skull base for treatment of various tumors (35 patients), repair of craniofacial trauma injury (33 patients), or cerebrospinal fluid leakage (10 patients). Preoperative evaluation and surgical procedures were reassessed. Significant complications in the oncology group consisted of one hematoma requiring aspiration, 2 cases of transient pneumocephalus, 2 osteocutaneous fistulae and 2 epiphoras. In the trauma group, one patient died from intracerebral damage, 2 presented with transient pneumocephalus, 5 with telecanthus and 5 with enophthalmy. The most frequent late complication in all three groups was anosmia. Based on this review, we feel that this technique is a safe and effective procedure for the surgical treatment of various pathological conditions involving the anterior skull base.

Adolescent↗
PubMed2000

Late sequelae after high midface trauma.

The upper midface area comprises mainly the naso-orbito-ethmoidal (NOE) region which plays a paramount role in facial expression. Fractures of this area often result in neglected bony defects in the fragile periorbital region with major secondary impairments such as traumatic telecanthus, orbital dystopia, and/or enophthalmos. Permanent cranial nerve deficits also can occur as the result of post-traumatic/post-operative sequelae. Seventy-one patients (age range 7-78 years) with severe high midface trauma, treated from January 1989 to December 1996, were reviewed with a minimum follow-up of 2 years. The patient population has been distributed according to the fracture type in three groups: Group 1 (n = 35): Isolated NOE with/without associated central midface injury; Group 2 (n = 22): NOE associated with craniofacial injury and Group 3 (n = 14): NOE associated with orbital displacement. The estimated post-surgical parameters included qualitative and quantitative data from the long-term clinical evaluation. Persistent headache and/or concentration difficulties were mainly noted in Group 1. Smell reduction or anosmia was reported mainly in Group 2. Deficits of the trigeminal and/or the facial nerve were found in Group 3. Enophthalmos and/or telecanthus were predominantly seen with injuries associated with orbital displacement.

Adolescent↗
PubMed2001

Nasal toxicity, carcinogenicity, and olfactory uptake of metals.

Occupational exposures to inhalation of certain metal dusts or aerosols can cause loss of olfactory acuity, atrophy of the nasal mucosa, mucosal ulcers, perforated nasal septum, or sinonasal cancer. Anosmia and hyposmia have been observed in workers exposed to Ni- or Cd-containing dusts in alkaline battery factories, nickel refineries, and cadmium industries. Ulcers of the nasal mucosa and perforated nasal septum have been reported in workers exposed to Cr(VI) in chromate production and chrome plating, or to As(III) in arsenic smelters. Atrophy of the olfactory epithelium has been observed in rodents following inhalation of NiSO4 or alphaNi3S2. Cancers of the nose and nasal sinuses have been reported in workers exposed to Ni compounds in nickel refining, cutlery factories, and alkaline battery manufacture, or to Cr(VI) in chromate production and chrome plating. In animals, several metals (eg, Al, Cd, Co, Hg, Mn, Ni, Zn) have been shown to pass via olfactory receptor neurons from the nasal lumen through the cribriform plate to the olfactory bulb. Some metals (eg, Mn, Ni, Zn) can cross synapses in the olfactory bulb and migrate via secondary olfactory neurons to distant nuclei of the brain. After nasal instillation of a metal-containing solution, transport of the metal via olfactory axons can occur rapidly, within hours or a few days (eg, Mn), or slowly over days or weeks (eg, Ni). The olfactory bulb tends to accumulate certain metals (eg, Al, Bi, Cu, Mn, Zn) with greater avidity than other regions of the brain. The molecular mechanisms responsible for metal translocation in olfactory neurons and deposition in the olfactory bulb are unclear, but complexation by metal-binding molecules such as carnosine (beta-alanyl-L-histidine) may be involved.

Animals↗
PubMed2001

Nares occlusion eliminates heterosexual partner selection without disrupting coitus in ferrets of both sexes.

Using an airtight Y maze and a new method to induce peripheral anosmia in ferrets, we assessed the contribution of conspecific odors, either alone or in combination with visual and auditory signals, to heterosexual partner preference. Sexually naive ferrets were gonadectomized and treated with sex steroids, after which their nares were either bilaterally occluded using dental impression material or were sham-occluded. Behavioral and histological evidence suggested that nares occlusion blocked access of odors to the main olfactory epithelium for the duration of the study. Sham-occluded females and males preferred to approach odor only or odor plus visual plus auditory cues from opposite-sex conspecifics, whereas nares-occluded ferrets approached opposite- and same-sex cues equally. All ferrets subsequently mated successfully in tests conducted in a small chamber. When retested in the Y maze, sham-occluded females and males again preferred to approach odor-only or odor plus visual plus auditory cues from opposite-sex ferrets, whereas nares-occluded subjects showed no such preference even in tests when a brief physical interaction with tethered stimulus ferrets was allowed after each trial. Our results show that in the ferret, a carnivore, the detection and processing of volatile odors from conspecifics by the main olfactory system is required for heterosexual mate choice.

Acoustic Stimulation↗
PubMed1998

[Pathological observation of the olfactory epithelium in dysosmia induced by chronic nasosinusitis].

OBJECTIVE: To understand the relationship between the pathology of the olfactory epithelium in dysosmia induced by nasosinusitis and the prognosis. METHODS: The olfactory epithelium of 23 patients who had chronic nasosinusitis and undergone endoscopic sinus surgery was histologically observed. All patients were diagnosed to have anosmia by olfactory tests before the operation. The history ranged from 5 to 30 years. Fifty were males and 8 females. RESULTS: Pathological changes were found in all cases: 16 (69.6%) with decreased olfactory cells, 10 (43.5%) had normal atrophic olfactory epithelia, 6 (26.1%) respiratory epithelial metaplasia and 10 (43.5%) mucous gland metaplasia. All the patients had been followed up for 6-10 months after operation. sixteen patients who had normal olfactory epithelia got improvement in their olfactory function; 7 patients whose olfactory epithelia were severely diseased got no amelioration of their symptoms. CONCLUSIONS: The quantity of olfactory cells bears a positive relation with the olfactory condition.

Adult↗
PubMed2001

Kallmann's syndrome: pregnancy through intracytoplasmic sperm injection and complicated by gestational diabetes.

Kallmann's syndrome is characterized by hypogonadotropic hypogonadism and anosmia. Assisted reproductive techniques such as intracytoplasmic sperm injection (ICSI) may be required to treat the infertile couple with oligozoospermia. Rare complications have been described in patients with Kallmann's syndrome, but gestational diabetes has not previously been reported. A case of Kallmann's syndrome with infertility is reported. Ovulation was successfully induced by human menopausal gonadotropin therapy, but pregnancy could not be achieved by artificial insemination or by conventional in vitro fertilization, although the husband had only moderate oligozoospermia. A high fertilization rate of the retrieved oocytes and successful pregnancy was achieved by ICSI. The pregnancy was complicated by gestational diabetes that was managed by insulin therapy. Successful ovulation induction in Kallmann's syndrome is not rare, but ICSI may be needed in selected cases. Some recent data have suggested that diabetes may occur in patients with Kallmann's syndrome, but further investigation is needed to establish whether gestational diabetes is associated with Kallmann's syndrome or is purely coincidental.

Adult↗
PubMed2001

Effects of injury severity and cognitive exaggeration on olfactory deficits in head injury compensation claims.

The purpose of this study was to examine the relationship between exaggeration and scores on a test of olfactory discrimination in patients being assessed in connection with a claim for financial benefits. Participants were 448 patients referred to a private practice in Edmonton, Alberta, Canada for psychological or neuropsychological assessment, related to evaluation of impairment and disability resulting from a work-related or non-work related accident. All patients were involved in some form of compensation claim at the time of their evaluation. All patients completed two tests designed to detect exaggerated cognitive deficits, the Computerized Assessment of Response Bias (CARB) and the Word Memory Test (WMT) as part of their evaluation. The diagnostic groups included 322 head injury cases, varying from very minor to very severe. Normative data for the smell test were derived from 126 patients with orthopedic injuries who passed both the CARB and the WMT. Patients with more severe traumatic brain injuries were 10-12 times more likely to have olfactory deficits than persons with trivial to mild head injuries. In a subgroup of patients who failed either the CARB or the WMT, there was no relationship between injury severity and total scores on the smell test. Therefore, the dose-response relationship between brain injury severity and olfactory deficits is severely attenuated when patients who are probably exaggerating their cognitive deficits are included in the analyses. Those patients with trivial to mild head injuries who demonstrated adequate effort on both the CARB and the WMT were no more likely to show olfactory deficits than the non-head-injured orthopedic control subjects. Therefore, anosmia following mild traumatic brain injury should not be concluded from self-reports or from tests of smell unless tests of effort have been passed. Effort should also be controlled in group studies of olfaction.

Adult↗
PubMed2002

[Normosmic idiopathic hypogonadotropic hypogonadism with GnRH receptor mutation(review)].

Mutations in gonadotropin releasing hormone receptor(GnRHR) gene(chromosome location, 4q21.2) cause autosomal recessive idiopathic hypogonadotropic hypogonadism (IHH) without anosmia. The spectrum of phenotypes is much broader, the mechanism of which still remains clarified yet. The prevalence may be 2.2% in all families with IHH, but 7.1% in families in which the affected female is present. The frequency may be common in familial case(40%) and infrequent in general sporadic cases(16.7%). Functional mutations of the GnRHR are distributed widely throughout the protein, although the hot spots are Gln(106) Arg and Arg (262) Gln. The same mutations cause different gonadotropin secretion capability, in which hyperstimulated pulsatile GnRH treatment could bring ovulation and pregnancy in some cases.

Adolescent↗
PubMed2001

[Cranialization of the frontal sinus].

UNLABELLED: In the surgery of frontal sinus exclusion, the place of cranialization is still controversial. Our aims were to describe the operative technique, report our results and discuss its indications. PATIENTS AND METHODS: Nineteen patients were operated according to this technique between 1984 and 1997. Cranialization was performed in the first place for tumors, osteitis, traumatisms and benign tumors or mucoceles with a special location. In patients with chronic sinusitis or mucocele, it was performed in the second place when functional surgery was considered as failure and because sinus obliteration seemed to be inappropriate. RESULTS: There was no mortality nor anosmia linked to the procedure. Postoperative sequelae were related to the disease or to the surgical approach. After a median follow-up of 29 months, no disease recurrence was observed. CONCLUSION: Cranialization of frontal sinus gives good results in selected patients, with low morbidity. Even though its indications are infrequent, this technique has its place in the surgical exclusion of frontal sinus.

Adolescent↗
PubMedDate not supplied

[Male hypogonadotropic hypogonadism. Success of treatment of sterility with HMG plus HCG].

Ten typical cases of male eunuchoidism (two with anosmia) are reported. After administration of clomifene citrate to five patients, there is no change in blood levels of gonadotrophins in four cases; in the fifth, a small and transitory increase of LH is noted. The intravenous injection of LHRH (100 mug) to five patients induces an increase of serum LH in all cases and serum FSH in three cases. The initial site of the dysfunction is possibly hypothalamic with secondary gonadotrophic pituitary insufficiency. Among six patients anxious for paternity, prolonged treatment (for 36 to 98 weeks), with HCG (250-1 000 I.U. daily) +HMG (65-120 I.U. FSH daily) results in appearance of spermatozoa in the seminal fluid in five cases and a pregnancy was obtained in four cases. Comments are done upon methods of treatment.

Adult↗
PubMed2002

[Subcranial subfrontal approach for the treatment of extensive cerebrospinal fluid leaks].

BACKGROUND AND PURPOSE: Over the time, the management of cerebrospinal fluid (CSF) rhinorrhea has been a major surgical challenge. In this paper, we will describe our experience using the extended anterior subcranial approach for the repair of extensive or previously treated CSF leaks. This approach consists of a nasoorbitofrontal bony flap, then an ethmoidectomy and sphenoidectomy are performed and the empty space is filled with subcutaneous fat, a pediculated periostal flap is dissected and layed extradurally at the base of the anterior cranial fossa. METHODS: Between January 1994 and December 1999, we reviewed the charts of 7 men and 3 women with a mean age of 36.5 years. The etiology was traumatic in 8 cases. One patient had a spontaneous CSF leak, the other had a macroprolactinoma. RESULTS: The average duration of surgery was 5 hours. Patients were kept in the Intensive Care unit for an average period of 36 hours. The mean follow-up period was 30 months. The success rate was 100%. Postoperatively, all of our patients were anosmic, four of them had anosmia as a preoperative finding. Cosmetically, the skin incisions are limited to the bicoronal incision. CONCLUSION: Knowing that the classical subfrontal and endoscopic approaches have their definite indications, our experience with the extended anterior subfrontal approach in the treatment of extensive or multiple anterior fossa defects suggests that it is a reliable procedure, giving an excellent access with low morbidity, provided that the patients are selected properly.

Adipose Tissue↗
PubMed2002

[Hearing disorders, dysosmia and dysgensia in patients undergoing irradiation for head and neck cancer].

UNLABELLED: The study included 30 patients who underwent irradiation for head and neck cancer in the Regional Oncology Center. Cobalt 60 was used to irradiate facial--cervical area bilaterally and parotid glands partially. Before and after the irradiation, audiometric test, examination for osmaesthesia and sense of taste were performed. MATERIAL AND METHOD: All patients underwent laryngologic examination. The sense of smell was estimated by using quantitative method (smell threshold test) and qualitative method (identificational test). Butyl alcohol with serial watery dilution from 0, 002 to 4 were used in the threshold tests. The identificational test relies on recognition of seven commonly known smells. The examination of taste was performed using the quantitative and qualitative methods. The assessment of taste threshold was made with electrogustometer. The organ of hearing was examined with tone audiometry. RESULTS: Audiometric examination of the patients before irradiation revealed sensorineural hearing loss in 14 patients while 6 patients proved mixed hearing loss. After the irradiation, 50% of the patients showed further hearing loss in the range of 5-30 dB. After the irradiation, the percentage of patients with anosmia was elevated to 20%. Normosmic patients were not observed. The quantitative method of the sense of taste before and after irradiation did not show a significant difference. Only 10% of patients who underwent irradiation recognized 4 basic tastes, 30% of them did not show the sense of taste in the qualitative method. CONCLUSION: 1. After the irradiation, 50% of the patients developed further hearing loss. 2. Olfactometric examination of the patients after laryngectomy showed different degree of hyposmia. 3. The quantitative method of smell performed in patients before and after irradiation showed no significant differences. 4. Distinct deterioration of taste recognition was observed in the qualitative method compared to the examination before irradiation.

Adult↗