Leigh's disease with decreased activities of pyruvate carboxylase and pyruvate decarboxylase.

In a patient with the clinical symptoms of Leigh's disease a partial deficiency of hepatic pyruvate carboxylase and pyruvate decarboxylase was found at necropsy. Cerebral pyruvate decarboxylase activity was also diminished. All enzyme activities were measured in total homogenates.

Biochemical studies in Hermansky-Pudlak syndrome.

In order to find the basic defect in the Hermansky-Pudlak Syndrome (HPS), biochemical studies of platelets and leucocytes were undertaken. Glutathione levels of platelets were normal and regeneration of GSH similar to controls occurred after incubation with diamide (a specific agent for GSH oxidation). Phospholipid and fatty acid composition of HPS platelets was normal.

Long-term follow-up of the Hancock bioprosthetic heart valve: a 6-year review.

Clinical experience with the Hancock porcine bioprosthetic heart valve was reviewed in 467 patients (254 men and 213 women, 18--84 years old, average, 56 years) who received 528 valves from January, 1972, to January, 1978. Associated procedures, including coronary bypass graft, ascending aortic aneurysm, and valvuloplasty were done in 102 of the 467 patients (22%). The overall operative mortality was 25/467 (5.

Botulism, type A, and treatment with guanidine.

In a double-blind crossover study in which patients received placebo or active drug for varying periods, we evaluated the ability of guanidine hydrochloride (20 to 35 mg/kg per day perorally) to improve the rate of recovery in patients with moderate or severe botulism, type A, intoxication. Among 14 patients who received conventional botulism therapy, there was no improvement in recovery rate in those who received guanidine compared with the nontreated group. Individual patients in the treated group showed neither an acceleration in their rate of improvement when they received guanidine nor a regression in their progress when the drug was stopped.

McArdle's disease: a study on the molecular basis of two different etiologies of myophosphorylase deficiency.

Three patients with myophosphorylase deficiency were investigated. Two had no detectable activity, while one had 1% residual activity. The patient with 1% residual activity had 40% of the normal amount of myophosphorylase protein.

Binding of unmodified low-density lipoproteins to human fibroblasts. An investigation by immunoelectron microscopy.

The bindinf of unmodified low density lipoproteins to the plasma membrane of fibroblasts was studied at the ultrastructural level. The bound low density lipoprotein was visualized by an indirect immunoperoxidase technique, with the use of an antiserum against apoprotein B. Immunoreactive regions representing bound apoprotein B were found on the plasma membrane, in indented regions with a diameter of 0.

Infantile and adult-onset acid maltase deficiency occurring in the same family.

A 16-week-old girl died from the infantile form of acid maltase deficiency (Pompe disease, acid alpha-glucosidase deficiency). Her paternal grandfather was well until the age of 53 years, when he started to suffer from the adult-onset form of the same enzyme deficiency. This observation suggests that the infantile and adult-onset forms of acid maltase deficiency are genetically related.

Late results of operation for acute aortic dissection producing aortic insufficiency.

Since July, 1970, 8 patients with acute dissecting aneurysms of the ascending aorta producing aortic insufficiency have undergone immediate operation employing a technique in which the origin of the dissection is resected, the dissected base of the aorta is lined with nondistensible prosthetic cloth for support, and the native aortic valve is resuspended. Aortic continuity is then reestablished with end-to-end anastomosis or use of a short segment of woven graft (not necessarily circumferential). There were no operative deaths.

Changing indications for the surgical treatment of unstable angina.

From 1970 to 1977, 127 patients were operated on for unstable angina. On the basis of response to intensive medical therapy, patients were classified into a medically controlled, semielective surgery group (54 patients) and a medically uncontrolled, emergent/urgent surgical group (73 patients). There were five operative deaths.

Glycogenosis type II: the infantile- and late-onset acid maltase deficiency observed in one family.

The concurrence of the infantile and adult form of acid maltase deficiency in one family is presented. The muscle of both cases possesses residual activity. The glycogen amount in the infantile form is increased tremendously, while in the late-onset the amount of glycogen is normal.

Insulin therapy for depressed myocardial contractility after prolonged ischemia.

Insulin was administered to two patients whose diminished myocardial contractility made it difficult to terminate cardiopulmonary bypass. In both instances, bypass was successfully terminated shortly after the insulin injection. These clinical observations led to experiments under the controlled conditions provided by the isolated, working rat heart preparation.

Biochemical, immunological, and cell genetic studies in glycogenosis type II.

Fibroblasts from patients with the adult, juvenile, and infantile form of glycogenosis type II (Pompe disease) were cultured under standardized conditions, and the activity of acid alpha-glucosidase (E.C.3.

[Selfinduced gingival mutilations--a diagnostic and therapeutic problem].

A case of factitial gingival traumatism and trichotillomania in a hysteric 28-year-old female patient is reported. During a period of 31 months the patient presented with gingival necrosis which involved the lingual aspects of all four quadrants respectively. A wide range of diagnostical aids failed to enlighten the nature of the lesions until the patient developed an alopecia capitis which was typical for hysteric trichotillomania.