Marfanoid habitus, dysmorphic features, and web neck.

Bilateral pneumothoraces and aortic dilatation developed in a 25-year-old white man with marfanoid habitus, dysmorphic features, web neck, and intellectual impairment. He had physical features suggestive of Shprintzen-Goldberg syndrome. We review the common characteristics of Marfan and Shprintzen-Goldberg syndromes and compare them with our case. Physicians should beware of potential cardiovascular abnormalities in patients with marfanoid habitus and dysmorphic features.

Effect of two types of mandibular advancement splints on snoring and obstructive sleep apnoea.

Snoring and obstructive sleep apnoea (OSA) both seem at least to be associated with narrowing of the upper airway and sleep-induced loss of muscle-tone. Mandibular advancement splints (MAS) have been proposed as a relatively simple method to increase oro- and hypo-pharyngeal dimensions thereby increasing the size of the airway. However, data on their effectiveness are conflicting and there are no clear indications as to which design is most effective or when they should be used. The effects of two designs of splint (types A and B) have been evaluated in 14 and nine subjects, respectively, using the Epworth Sleepiness Score (ESS) and domiciliary sleep monitoring on separate nights. Both splints reduced the median ESS (type A from 12 to 4.5; P = 0.003, type B from 7 to 4; P = 0.005). The apnoea-hypopnoea index was not affected by type A, but was reduced from 7.1 to 0.8; P = 0.005 by type B splints. There was evidence of a small improvement in overnight oxygen saturation for type B splints (P = 0.02). The splints were well tolerated and continued to be used nightly by 18 subjects. Mandibular advancement splints may offer a simple and effective alternative for the treatment of snoring and mild OSA in selected patients. Splint design may have considerable bearing on efficacy.

Medical thoracoscopy in the diagnosis of unexplained pleural effusion.

Approximately 20% of pleural effusions remain without an established aetiology after evaluation. Thoracoscopy has a very high sensitivity for the diagnosis of both benign and malignant diseases and greatly increases the diagnostic yield for pleural effusion. We sought to evaluate the diagnostic yield and safety of medical thoracoscopy at this institution. The records of all patients undergoing medical thoracoscopy for the evaluation of undiagnosed pleural effusion between 1990 and 1996 were reviewed. The procedure was performed under local anaesthesia with sedation using a Stortz rigid thoracoscope. Fifty-eight patients had thoracoscopy, most having had two (range: 1-6) non-diagnostic pleural aspirations and biopsies of the pleura. Nineteen patients were found to have mesothelioma and nine metastatic malignancy. Three patients were considered likely to have tuberculous pleural disease, six had asbestos related benign pleural fibrosis and three post-cardiotomy syndrome. There was one chylous effusion of uncertain aetiology, one posttraumatic and two other benign effusions, both of which resolved without clear aetiology. On seven occasions the pleural space could not be adequately accessed, but none of these patients had prior computerized tomography (CT) or ultrasound of the pleural space. There were five false negative diagnoses of malignancy, but no false positives. The diagnostic sensitivity for pleural malignancy was 85% and specificity 100%. There were no major complications, but four patients had late tumour seeding at the thoracoscopy site. Medical thoracoscopy is a safe procedure with a high diagnostic yield. Pre-operative evaluation of the pleural collection using ultrasound or CT increases the likelihood of successful access to the pleural space and may increase diagnostic yield.

The effect of sustained-release morphine on breathlessness and quality of life in severe chronic obstructive pulmonary disease.

Morphine has been proposed as a treatment for breathlessness in patients with severe chronic obstructive pulmonary disease (COPD), but there is uncertainty as to whether or not it is effective. Orally administered sustained-release morphine was compared with placebo in a randomized, double-blind, crossover trial with two 6-wk treatment periods separated by a 2-wk washout period. The primary end point was quality of life measured using the Chronic Respiratory Disease Questionnaire (CRQ). Secondary end points included 6-min walk (6MW), distance, and breathlessness scores. Sixteen subjects with a mean age 70.7 yr, FEV1 of 0.6 L, and VC of 1.90 L were studied. There was no change in the total CRQ score with either treatment, but the score on the Mastery subscale was significantly worse with morphine (p = 0.02). The 6MW distance increased by 21 m from the beginning to the end of the placebo treatment period, but it decreased by 35 m with morphine (p = 0.04). There were no differences between treatments in breathlessness scored on daily diary cards or on the Dyspnea subscale of the CRQ. Almost all the subjects experienced adverse effects related to morphine. Sustained-release morphine was not a useful treatment for breathlessness in these patients with severe COPD.

Glucocorticoid osteoporosis.

Glucocorticoids act on calcium metabolism at many levels to produce osteoporosis, the major pathogenic effect probably being an inhibition of bone formation. In men, this is likely to be contributed to by a dose-related reduction in circulating testosterone concentrations. Bone density is reduced 10-20% at the commonly assessed sites, but deficits of twice this magnitude are found in trabecular bone. Dose and duration of steroid treatment influence the degree of osteopenia, but biochemical indexes of calcium metabolism are not predictive. In managing a steroid-treated patient, bone densitometry is usually helpful. Those with low densities should optimize their calcium intake, and those with sex hormone deficiency should receive appropriate replacement therapy. If bone loss is severe or continues despite these measures, the addition of bisphosphonate, calcitonin, fluoride, or a vitamin D metabolite may be appropriate, according to local availability. Thiazide diuretics can be combined with all these regimens. If thiazide diuretics are combined with vitamin D or its metabolites, careful monitoring of serum calcium should be undertaken. Bone density should be monitored annually until it is stable.