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PubMed2006

Lipoid proteinosis: A case with ophthalmological and psychiatric findings.

Lipoid proteinosis (LP) is an uncommon, recessively inherited disorder. The disease usually has its onset in the newborn period and is manifested by hoarseness. The skin and mucous membrane involvement arises between the first and second year of age. A 14-year-old male presented with the complaint of blistering on various sites of his skin, from the age of 12 months, resulting in scarring. Ophthalmological and psychiatric findings also appeared during the clinical course. The histological findings of skin biopsy included extensive deposits of amorphous eosinophilic material in the papillary dermis. No known therapy exists for LP.

Adolescent↗
PubMed1994

Review article: gastro-oesophageal reflux and laryngeal symptoms.

There is some evidence from clinical, experimental and multiprobe ambulatory pH studies that gastro-oesophageal reflux is more common in patients with laryngeal symptoms and could potentially play a role in the causation of these symptoms. The proportion of unselected patients with laryngeal symptoms who have gastro-oesophageal reflux as the primary aetiology may be overestimated in some series. The symptom that has been most evaluated is hoarseness, but even for this symptom the proportion of patients who have significant reflux varies widely. There is even less agreement for other symptoms, and the data on globus sensation remains confused. It is likely that these patients present to ear, nose and throat (ENT) clinics because of the relative insensitivity of the oesophageal mucosa to acid exposure. Given the lack of specificity for routine diagnostic tests for gastro-oesophageal reflux, it is necessary to perform ambulatory pH monitoring for a secure diagnosis in these patients. Treatment studies have been surprisingly few and inadequate in design. It is suspected that there is a strong placebo response for these symptoms. No clear information on efficacy can be provided until placebo-controlled randomised studies are available.

Clinical Trials as Topic↗
PubMed2004

Review article: diagnosis and clinical investigation of gastro-oesophageal reflux disease: a European view.

In Western populations, many individuals with symptoms of gastro-oesophageal reflux disease (GERD) do not bother to seek medical attention because their symptoms are mild and acceptably controlled by self-medication. Among those who do consult physicians, only a minority present with the classical clinical symptoms of heartburn and regurgitation: more often the pattern is a nonspecific combination of upper gastrointestinal complaints that do not permit confident clinical diagnosis. Oesophagitis is now found in less than 50% of GERD patients and those without oesophagitis are sometimes said to have 'non-erosive reflux disease'. If a patient's clinical history is inadequate for diagnosis and the oesophageal endoscopic appearances are normal, ambulatory pH monitoring may be required if the diagnostic uncertainty is to be resolved. Despite initial enthusiasm, the 'Proton Pump test' for GERD has proved unreliable and has fallen from favour. Intraluminal impedence measurement is currently considered a research tool only. Most European gastroenterologists acknowledge the occurrence of 'atypical' presentations of GERD, including noncardiac chest pain, asthma and hoarseness (laryngitis), though confirmation of GERD as the cause of such symptoms in individual patients is often difficult.

Electric Impedance↗
PubMed1992

An evaluation of the gum elastic bougie. Intubation times and incidence of sore throat.

This study was designed to evaluate the routine use of a gum elastic bougie for tracheal intubation. The median time to intubation with the gum elastic bougie while simulating an 'epiglottis only' view was only 10 s longer than the time taken during conventional intubation with an optimum view. Three of the patients required a gum elastic bougie-assisted intubation after attempts at conventional visual intubation had failed. There was no significant difference in the incidence of postoperative sore throat and hoarseness between the two groups. We recommend that anaesthetists should use the gum elastic bougie whenever a good view of the glottis is not immediately obtained.

Evaluation Studies as Topic↗
PubMed1994

Teaching fibreoptic intubation in anaesthetised patients.

One hundred ASA grade 1 and 2 patients requiring orotracheal intubation for various general surgical procedures were randomly assigned to receive either expert rigid laryngoscopic or novice fibreoptic orotracheal intubation under total intravenous anaesthesia. Five anaesthesia residents in the 4th year, with no prior experience in fibreoptic laryngoscopy, participated in a fibreoptic training course, viewing two instructional videos and practising on the intubation manikin. Each resident intubated 20 patients in a randomised fashion either as an expert laryngoscopist or as a fibreoptic novice. The time (SEM) to achieve successful intubation was statistically different for fibreoptic and rigid intubation (77.2 (5.1) s vs 17.7 (1.6) s, p < 0.01). The time to achieve successful rigid laryngoscopic intubation remained constant over the ten intubations, whereas time required for fibreoptic intubation decreases significantly (p < 0.01). The learning objectives (fibreoptic intubation times in 60 s or less and with 90% or greater success rate on the first intubation attempt) were met by all residents. The haemodynamic profile was similar for fibreoptically intubated and conventionally intubated patients and there was no difference between the first two or the last two fibreoptic or rigid intubations. The study was designed to detect a difference of 10% in means (assuming alpha = 0.05 and beta < or = 0.2). The incidence of postoperative sore throat, dysphagia or hoarseness was similar in both groups.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1988

Remarkable response of lipoid proteinosis to oral dimethyl sulphoxide.

We report the successful treatment of lipoid proteinosis in a 41-year-old man using oral dimethyl sulphoxide. The initial dosage was 40 mg/kg/day, which was then increased progressively to 60 mg/kg/day. After 3 years of treatment, the patient's skin lesions, hoarseness of voice and abnormal oesophageal function improved remarkably. No side-effects were noted except for a garlic-like smell on the patient's breath.

Administration, Oral↗
PubMed2007

A failure of mucocutaneous lymphangiogenesis may underlie the clinical features of lipoid proteinosis.

Lipoid proteinosis (LiP) (OMIM 247100) is a rare autosomal recessive disease caused by loss of function mutations in the extracellular matrix protein 1 gene, ECM1, on chromosome 1q21. LiP is characterized clinically by hoarseness in early infancy, followed by waxy papules and plaques on the face and body along with pox-like and acneiform scars. We studied a 20-year-old Japanese woman with LiP. She was born of consanguineous parents. Biopsy specimens obtained from a nodule on the elbow were used for histopathology, immunohistology and electron microscopy. Exons 6 and 7 of ECM1 were amplified by polymerase chain reaction (PCR) from genomic DNA from the proband, her parents, her brother and an unrelated person. PCR products were sequenced to detect the mutation. Histopathological examination revealed an irregular mass of calcium beneath deposits of a hyaline material in the dermis. Immunofluorescence double staining showed that the CD31-positive microvascular density was increased but that staining for the lymphatic-specific hyaluronan receptor LYVE-1 was drastically diminished in lesional compared with nonlesional skin of the patient and with normal skin. Electron microscopy revealed marked concentric reduplication of basal laminae not only around blood vessels but also around solitary dermal cells positive for Weibel-Palade bodies scattered in the hyaline material. Sequencing of the PCR products revealed a homozygous frameshift mutation, 507delT, in exon 6. This led to a premature stop codon 23 bp downstream. The results of immunopathological and ultrastructural characterization suggest that a failure of mucocutaneous lymphangiogenesis may underlie the clinical features of LiP. Identification of mutation 507delT in a Japanese patient with LiP further supports the thesis that this mutation represents a recurrent mutation in ECM1 in patients with LiP. To our knowledge, this case represents the first report of calcinosis cutis occurring in LiP.

Adult↗
PubMed1979

A prospective study of respiratory infection in adult asthmatics and their normal spouses.

A prospective study of respiratory infections was performed in nineteen married asthmatics and their normal spouses who were examined at monthly intervals during a 1-year period. The colds described were associated with nasal symptoms, sore throat and usually malaise, fever, cough and hoarseness. The asthamtics reported a larger number of these symptomatic episodes than the non-asthmatics but significantly fewer of the episodes in the asthmatics were objectively confirmed by viral isolation or rise in serum titre of viral antibody. The frequency of respiratory infections was not influenced by the long term use of inhaled beclomethasone dipropionate and oral corticosteroid drugs. Less than 10% of the exacerbations of asthma were associated with respiratory infection. The disability resulting from respiratory infections in the asthmatics did not significantly exceed that in the non-asthmatics.

Adult↗
PubMed1977

Electrolaryngography in laryngeal disorders.

This study was designed to analyse recordings of vocal fold vibrations using the laryngograph, a machine which measures the change in electrical impedance across the larynx. Recordings were made of each patient reading a standard text. The output was analysed in two ways: by study of waveform, and by production of a frequency distribution curve, this last being performed by a PDP 12 computer. Analysis shows an increase in the low frequencies and irregular curve associated with hoarseness but no pattern specific for different diseases. After operation and speech therapy an objective measure of success or failure is provided. But for practical use other than in research a less time consuming method of analysis is necessary. Production of this is being considered.

Humans↗
PubMed1983

Squamous papillomas of the larynx in adults. A review of 63 cases.

Sixty-three cases of squamous papillomas of the larynx occurring in adults are presented. Twelve cases started as juvenile papillomas and continued into adult life. Twice as many males as females were in the series. The papillomas were always present on the true vocal cords at presentation, although other parts of the larynx were involved to a variable extent. The symptom of hoarseness gave a good indication as to the state of the larynx during treatment. Malignancy did not develop in patients with papillomas which fulfilled the histological criteria. Papillomas are clusters of thin, cylindrical projections of squamous epithelial covered mucosa with second and even third order branching. Biopsies in 5 cases show papillomatosis of respiratory epithelium, a process which is here described in the larynx for the first time. The prognosis as regards recurrence for 20 patients with solitary lesions was good, for 38 patients with multiple lesions reasonable, but for 5 patients with extensive florid lesions was exceptionally poor.

Adolescent↗
PubMed1991

Primary localized amyloidosis in one family.

Primary localized amyloidosis was found in a family. A 66-year-old woman had suffered from hoarseness for 18 years. A biopsy specimen from the larynx showed amyloid deposits in the submucosal connective tissue. Her 40-year-old daughter noticed a subcutaneous nodule on her philtrum. Histologic examination showed the deposition of amyloid in the middle and lower dermis, which also encased the blood vessels and epidermal appendages. In both cases the amyloid deposits were positively stained with Congo red and the staining was resistant to potassium permanganate treatment. These amyloid deposits were strongly positive against the anti-amyloid antibody of the lambda light chain. These results indicate that the amyloid substance is derived from protein AL. There was no clinical or laboratory evidence of systemic amyloidosis or multiple myeloma in either patient.

Adult↗
PubMed2004

A review of the atypical manifestations of gastroesophageal reflux disease.

Manifestations of atypical gastroesophageal reflux disease (GORD) are varied, and the presentation of atypical symptoms may occur in the absence of typical symptoms. The most sensitive and specific investigation for GORD is pH monitoring, and its application in atypical disease is utilized throughout this paper as a basis for correlating disease and pathogenesis. The less well-known areas of laryngeal manifestations, particularly chronic hoarseness and globus, are discussed in addition to recent work on orodental manifestations. Well-known areas of cardiac and respiratory manifestations, which include chronic cough and asthma, are also reviewed. Evidence from clinical trials indicates that aggressive anti-reflux therapy in patients with atypical symptoms can be effective. Where appropriate, medical therapy may involve long-term proton pump inhibitor, although further research outlining the roles of other therapies such as surgery is awaited.

Chest Pain↗
PubMed1985

High dose inhaled budesonide in the treatment of severe steroid-dependent asthmatics. A two-year study.

Thirty-eight patients with chronic asthma requiring continuous oral corticosteroid treatment took part in a 2-year study. Budesonide, a new inhalation steroid with high topical activity and low systemic effects, was given in stepwise increasing doses from 200 micrograms daily up to 800-1600 micrograms daily and prednisolone doses were decreased gradually on an individual basis. After 2 years, 18 patients had been able to cease oral prednisolone treatment, 11 had decreased the dose by greater than or equal to 50%, three by less than or equal to 50% and two patients had increased their dose. At the end of the study the majority of patients (26) were using 800 micrograms budesonide daily and seven, 1200 micrograms or more daily. There were two dropouts, one due to local side effects and one to a severe pulmonary eosinophilia. Ten patients had local side effects in the form of hoarseness and/or sore throat, and 13 patients had steroid withdrawal symptoms such as arthralgia and myalgia. The asthma condition in all patients was improved, as indicated by the reduced need for hospital admissions. The results indicate that high doses of budesonide should be tried before starting maintenance therapy with oral steroids.

Administration, Intranasal↗
PubMed1989

Comparison of dose-response effects of inhaled beclomethasone dipropionate and budesonide in the management of asthma.

The dose-response effects of inhaled beclomethasone dipropionate (BDP) and budesonide (BUD) administered b.i.d. with the aid of metered dose aerosols were studied in 128 patients (67 men and 61 women, mean age 53 years) suffering from asthma bronchiale. The study was designed as a multi-centre, double-blind, four-period cross-over study, followed by a single-blind double placebo period. BDP was administered in doses of 400 and 1000 micrograms, and BUD in doses of 400 and 800 micrograms. The results in terms of peak expiratory flow (PEF) in the morning and evening, daily symptoms score and use of inhaled beta 2-agonists did not reveal any clinically significant differences between the drugs or between high (800 micrograms BUD, 1000 micrograms BDP) and low (400 micrograms BUD/BDP) doses. However, statistically significant differences were recorded for the corresponding parameters when comparing the placebo with preceding steroid periods. Adverse effects consisting mainly of oropharyngeal candidiasis, hoarseness and cough occurred in 54 of 468 treatment months (12%). The carry-over effects of inhaled steroids are longer lasting than was previously assumed.

Administration, Inhalation↗
PubMed1990

Nasal inhalation of the glucocorticoid budesonide from a spacer for the treatment of patients with pollen rhinitis and asthma.

Glucocorticoid sprays are increasingly used for the treatment of allergic rhinitis and asthma. This therapy is highly effective, and side effects are few and mild. It was the aim of the present study to evaluate a physiological nasal inhalation technique, which results in airway deposition of the steroid molecule similar to that of inhaled allergen particles. Thirty adults with grass pollen-induced rhinitis and asthma inhaled the steroid molecule budesonide through the nose from a pressurized aerosol attached to a spacer device. Compared with inhalation of placebo, the treatment resulted in a significant reduction of nasal symptoms (P = 0.005), of bronchial symptoms (P = 0.005), but not of eye symptoms. In addition, nasal peak inspiratory flow (P = 0.0003) and oral peak expiratory flow (P = 0.02) increased. There was no difference between budesonide and placebo with regard to local side effects, such as nose bleeding, hoarseness, and irritation in mouth and throat. It is concluded that nasal inhalation of a steroid from a spacer offers effective therapy of pollen rhinitis and asthma without significant local side effects. This therapeutic modality may have advantages over the ordinarily used nasal and bronchial spray treatment in patients with both rhinitis and asthma, especially when conventional spray therapy is associated with local side effects.

Administration, Topical↗
PubMed1998

Nasal inhalation of budesonide from a spacer in children with perennial rhinitis and asthma.

The standard treatment of allergic rhinitis and asthma consists of topical corticosteroids administered intranasally and inhaled through the mouth. Although this therapy is highly effective, and side-effects are few and mild, it may be possible further to improve the therapeutic index and patient compliance with the treatment. In the present study, we evaluated a nasal inhalation system used for the simultaneous treatment of rhinitis and asthma. In principle, it results in an airway deposition of the corticosteroid similar to that of inhaled allergens. Twenty-four children with perennial rhinitis and asthma inhaled budesonide through the nose from a pressurized aerosol, attached to a spacer device, in a double-blind, placebo-controlled, crossover study. Compared with placebo, budesonide treatment resulted in a significant reduction of nasal symptoms (P<0.01) and of asthma symptoms (P<0.05), and in an increase of nasal peak inspiratory flow (P < 0.001) and of oral peak expiratory flow (P=0.01). There were no differences between budesonide and placebo in local side-effects, such as dry nose, nosebleed, and hoarseness. We conclude that nasal inhalation of a corticosteroid from a spacer offers a simple and effective treatment for both rhinitis and asthma in children, but it is an open question whether the nasal inhalation system can improve the ratio of antirhinitis/antiasthma effects to side-effects.

Administration, Inhalation↗
PubMed1985

Expression of X-linked hypohidrotic ectodermal dysplasia in six males and in their mothers.

Six male patients with confirmed X-linked hypohidrotic ectodermal dysplasia and their mothers were studied to determine the variation of expressivity in patients and heterozygotes, major problems of the patients, and to find a clue to pathogenesis. The number of teeth, conic in shape, in patients varied from none to 14. In addition to hypohidrosis and hypotrichosis, dry skin, reduced salivation, hoarseness and hypoplasia of the nipples were common signs. Five patients had frequent respiratory infections. The mothers lacked more than four permanent teeth, one mother had hypodontia in the deciduous dentition. The sweat pore counts were low in patients, and lower than normal in the mothers. All patients carried beta-hemolytic streptococci, four of them group A either in nose or pharynx, without symptoms. Immunoglobulin values, including IgA were normal in serum and saliva. Unexpectedly, serum parathyroid hormone concentrations both in patients and mothers were low. The major problem of the families was the risk of hyperpyrexia due to hypohidrosis, but the patients' concern was mostly because of their facial appearance.

Body Temperature Regulation↗
PubMed1997

Labial food challenge in children with food allergy.

The current increase in the prevalence of food allergies appears to have several causes including better screening, improved diagnosis and changes in both the techniques used by food manufacturers and eating habits. Labial food challenge (LFC)is simple, rapid to perform and is associated with only low risks of systemic reaction. It is thus an appealing alternative to the oral food challenge (OFC) for pediatric use. We report a series of 202 LFC performed over two years in 142 children with food allergy suspected from the case history, positive skin prick tests and specific serum IgE assays: 156 LFC were positive; and 46 negative, followed by positive single-blind, placebo-controlled food challenges (SBPCFC). The foods provoking reactions were egg white (75 cases), peanut (60 cases), mustard (23 cases), cow's milk (13 cases), cod (8 cases), kiwi fruit, shrimp (4 cases each), chicken, peanut oil (3 cases each), hazel nuts (2 cases), and snails, apple, fennel, garlic, chilli peppers, pepper, and duck (1 case each). LFC positivity was mostly (89.7% of cases) manifested as a labial edema with contiguous urticaria. There were systemic reactions in 4.5% of cases: generalized urticaria, hoarseness and rapid-onset and generalized eczema. The 46 infants with negative LFC results had positive SBPCFC. The reactions were in 34 cases generalized urticaria, 10 cases asthma attacks, 2 cases early and generalized eczema, and in one case general anaphylactic shock. The sensitivity of the LFC was 77%. The LFC was easy to perform with children. Positive results indicate the presence of food allergy, but negative results require further investigations preferably double-blind, placebo-controlled food challenge (DBPCFC).

Administration, Oral↗