Faculty Bibliography

The recent recognition of the sleep apnea syndrome has forced a re-evaluation of the mechanism of hypercapnia and disordered respiratory control in obese patients. Thirteen obese patients with sleep apnea were studied in an attempt to relate the pattern of sleep abnormality and awake ventilatory control to the presence of chronic hypercapnia. Patients with hypercapnia and/or hypoxemia had reduced ventilatory responses to hypercapnic and hypoxic stimulation, respectively. The presence of hypercapnia, however, did not separate the patients with respect to type, duration, or frequency of apneas. The degree of awake chemical drives could not be related to the severity of the sleep apnea phenomenon. However, patients with intact ventilatory control demonstrated augmented ventilation after apneas, which may explain their eucapnic state

The Hermansky-Pudlak syndrome is a form of oculocutaneous albinism, characterized by a qualitative platelet defect and deposition of ceroid-like material throughout the reticuloendothelial system. During a 16 month period five patients with Hermansky-Pudlak syndrome presented with symptoms, chest films and pulmonary function studies consistent with restrictive pulmonary disease. In two patients, lung biopsies revealed diffuse interstitial fibrosis. However, light and electron microscopy demonstrated ceroid-like material within alveolar macrophages. In addition, two patients presented with inflammatory bowel disease with deposition of ceroid-like material in the colon. This disorder appears to be more common than is currently recognized and should be considered in the differential diagnosis of diffuse interstitial pulmonary disease and inflammatory bowel disease. A relationship between the deposition of ceroid-like material and pulmonary fibrosis is discussed in light of recent research concerning inflammatory processes. In view of the serious pulmonary, gastrointestinal and hematologic consequences of this syndrome, there is a need for genetic counseling of these patients