Lung involvement in essential mixed cryoglobulinemia.

Lung function studies were performed in 23 patients with the syndrome of essential mixed cryoglobulinemia. Signs of exposure to hepatitis B virus were present in nine (HBV+) and absent in 14 (HBV?). Pulmonary symptoms were generally absent or moderate except in three patients who presented with either asthma, hemoptysis or pleurisy together with the other manifestations of the disease. On the contrary, tests indicative of small airways disease, such as forced end-expiratory flow (FEF_0.75-0.85VC) and maximal expiratory flow at low lung volume (Vmax_0.75VC) were markedly altered (61.9 per cent and 40.4 per cent of the expected values, respectively). Other lung function tests, such as residual volume (RV), airway resistance (Raw), FEF_0.25-0.75VC, maximal expiratory flow at 50 per cent vital capacity (VC)(Vmax_0.50VC) showed smaller deviations from normal, whereas vital capacity (VC), total lung capacity (TLC), forced expiratory volume in 1 second (FEV₁), FEV₁:VC, RV:TLC and intrathoracic gas volume (ITGV) were within the normal limits. Nine of 14 of the HBV? patients showed impairment of gas exchange, measured as alveoloarterial oxygen gradient D(A-a)O₂, which, on the contrary, was always within normal limits in the nine HBV+ patients. The difference between the two groups was significant (28.4 mm Hg and 18.6 mm Hg, respectively, p < 0.025). Roentgenographic signs of interstitial lung involvement were present in 18 of 23 patients. Lung scan showed, in all instances in which it was performed, inhomogeneities of regional lung perfusion; they were, however, minimal in nearly half of the cases. The present data indicate that lung involvement is frequent in essential mixed cryoglobulinemia, that it should be recognized in addition to the other features of the disease and that it seems to be more pronounced in the HBV? patients. Indirect evidence suggests that circulating immune complexes may play a role in the genesis of the lung abnormalities observed in these patients.     

Werner's syndrome: in vivo and in vitro characteristics as a model of aging.

Three patients who suffered from Werner's syndrome were studied to help to elucidate differences from and/or analogies to both clinical symptoms and biochemical changes in normal aging. Our patients commonly manifested graying of hair, atrophy and hyperkeratosis of the skin, cataracts and hypogonadism. Such alterations would appear to be analogous to normal aging phenomena. However, the types of cataracts, degree of skin changes and growth retardation in Werner's syndrome differed from the normal aging phenomena.Studies of endocrine functions in our patients did not show definite evidence of generalized hypopituitarism and impaired function of hormone secretion. Resistance to hormones human cholionic gonadotropin (hCG), luteinizing hormone-releasing hormone (LH-RH) and insulin was observed, suggesting a possible alteration of a diversity of proteins which may affect hormone receptors.Immunologic aspects were also studied, since the genetically programmed failure of thymic function could play a major role in the pathogenesis of aging and age-related diseases. Our results in three patients did not indicate any definite immunologic abnormalities.Culture studies showed that skin fibroblasts in Werner's syndrome exhibited more decreased potentials of in vitro clonal growth and elongation of newly synthesizing DMA as phenotypic expressions than did normal skin cells. Yet, in Werner's syndrome, cells repaired DNA damage normally. The relationship of these findings to the basic genetic defect of Werner's syndrome remains unknown.     

Adrenoleukodystrophy and adrenomyeloneuropathy associated with partial adrenal insufficiency in three generations of a kindred.

Four cases of adrenoleukodystrophy (ALD) and one case of adrenomyeloneuropathy (AMN) have developed in a kindred over three generations demonstrating that AMN is a clinical variant of ALD. Pituitary-adrenal function studies were performed in 10 family members, including two affected males and four females identified as carriers of ALD/AMN. No pituitary-adrenal abnormality was found in the carriers. However, basal morning plasma adrenocorticotropic hormone (ACTH) levels were markedly elevated in the two males with ALD and AMN, despite the fact that they had no clinical signs of adrenal insufficiency and that morning plasma cortisol levels and their response to maximal exogenous ACTH stimulation appeared to be normal. In addition, the integrated 24-hour response to the administration were also subnormal in these two cases. Thus, people with ALD and AMN may have subclinical partial adrenocrotical insufficiency. No other endocrinologic dysfunction was identified.     

Idiopathic thrombocytopenic purpura occurring in a subject previously splenectomized for traumatic splenic rupture: Role of splenosis in the pathogenesis of thrombocytopenia

A 25 year old woman presented with idiopathic thrombocytopenic purpura. She had undergone splenectomy 12 years previously for traumatic splenic rupture. Thrombocytopenia was ultimately resistant to steroid therapy. Howell-Jolly bodies were absent from the peripheral smear and ^99mTC-spleen scan demonstrated foci of increased uptake thought consistent with accessory spleens. However, splenosis alone was demonstrated at laparotomy, and all visible splenotic tissue was surgically removed. The patient responded and adequate platelet counts were maintained after discontinuation of steroid therapy. The functional capacity of splenic implants has been previously demonstrated both in animal and man. However, reports linking splenosis to hematologic disease are rare. In the present case, characteristic splenic function was demonstrated by both the ^99mTc-spleen scan and the absence of the typical peripheral blood findings of asplenia. The hematologic response to the removal of the splenotic tissue attests to its importance in maintaining the thrombocytopenic state. In the setting of prior splenectomy for splenic trauma, splenosis may contribute to hematologic disease. Removal of this splenotic tissue may result in hematologic remission.     

Tetralogy of Fallot in adults. A report on 147 patients.

Presented here is the clinical and hemodynamic profile of 147 patients, above the age of 18 with tetralogy of Fallot. Cardiac catheterization and selective cineangiocardiography were performed in all. Infundibular pulmonary stenosis, a subaortic large infracristal ventricular septal defect, mitral-aortic fibrous continuity and equal pressures in both the ventricles and aorta were considered mandatory for the diagnosis of tetralogy of Fallot. Cardiac enlargement was seen in 25.8 per cent of the patients, and 15.6 per cent were in congestive cardiac failure; 9.5 per cent had systemic hypertension, and aortic regurgitation was present in 6.7 per cent. A reticular pattern in the lung fields due to bronchial collaterals was seen in 23.1 per cent. The incidence of right aortic arch (19.9 per cent), absent left pulmonary artery (2.8 per cent), absent right pulmonary artery (0.7 per cent) and dextrocardia (1.4 per cent) is brought out. The right atrial mean pressure was increased in 4.8 per cent and a prominent "a" wave greater than 10 mm Hg was present in 10.9 per cent. The right ventricular end-diastolic pressure was increased in 23.8 per cent and the left ventricular end-diastolic pressure in 25.9 per cent of the patients.     

Vigorous supplementation of a hypocaloric diet prevents cardiac arrhythmias and mineral depletion

We have previously demonstrated that a hypocaloric, nutritionally deficient, liquid protein diet is associated with potentially lifethreatening cardiac arrhythmias, which increased in frequency and complexity over the duration of the study. The present investigation was designed to evaluate the metabolic and cardiac changes associated with a hypocaloric, but otherwise nutritionally complete, diet. Six healthy, obese females from 154 to 182 percent of ideal body weight were evaluated in a metabolic ward for 48 days. The subjects ingested a weight maintenance diet during an eight-day period, which was followed by 40 days of an experimental diet containing 472 kcal of a mixture of protein (60 percent of calories), carbohydrate (25 percent), and fat (15 percent). This diet equaled or exceeded the recommended daily allowances for minerals, trace elements, vitamins, and essential fatty acids. The subjects were monitored for balances of nitrogen and minerals, as well as for the appearance of cardiac arrhythmias by 24-hour electrocardiographic recordings. Nitrogen balance was positive, and the previously demonstrated negative balances for potassium, sodium, calcium, magnesium, and phosphorus were either reversed or markedly decreased. In contrast to our previous study, no arrhythmias were observed in subjects ingesting the present experimental diet, and no significant change in cardiac rhythm was found in 13 obese, but otherwise healthy, outpatients. The data, based on a limited number of subjects, suggest that a hypocaloric diet vigorously supplemented with essential elements, micronutrients, and vitamins appears to be safer than the once popular, incomplete liquid protein preparation.     

Syphilitic aortic aneurysm presenting with the superior vena cava syndrome

In a 65 year old man with hemoptysis, chest pain, weight loss, clubbing of the digits and a large mediastinal mass, the superior vena cava syndrome developed. He was treated for malignancy with radiation therapy and corticosteroids, but he died shortly after his admission to the hospital. Autopsy revealed syphilitic aortitis with an aneurysm of the ascending aorta compressing the superior vena cava and right mainstem bronchus. The postmortem serology corroborated the morphologic findings of tertiary syphilis. In this report we emphasize the important, although now uncommon, association between the superior vena cava syndrome and aneurysm of the aorta.     

Intracranial tuberculoma: Conservative management

Twenty cases of intracranial tuberculoma were treated by us. A cllnical-radiographic syndrome was recognized, consisting of an avascular enhancing mass lesion surrounded by marked edema and associated with relatively less severe clinical manifestations than would have been expected from the size and location of the lesion. This allowed successful medical therapy with three antituberculous drugs for an average of 12 months. Steroids, when used, were beneficial In relieving symptoms of cerebral edema without causing spread of tuberculosis. Medically treated patients had a significantly better functional recovery than those from whom the tuberculoma was excised.     

Sporothrix schenckii meningitis in a farmer with Hodgkin's disease

A fatal case of chronic meningeal sporotrichosis occurring as an opportunistic infection in a patient with Hodgkin's disease is presented. A pulmonary source of infection was identified at autopsy. The diagnostic importance of the isolation of Sporothrix schenckii from cerebrospinal fluid, even if only from a single specimen, is stressed.