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Biomedical subjects

G H Sack

Publications and source records attributed to G H Sack.

50 records · Page 3Linked to original sources
PubMed1979

Holt-Oram syndrome.

The autosomal dominant association of upper extremity skeletal defects with congenital heart disease is known as the Holt-Oram syndrome. We reviewed our experience with 39 affected patients of whom 15 were considered new mutations. Wide varieties of skeletal defects and congenital heart disease were observed, and the severity of skeletal involvement did not parallel that of cardiac disease. These patients demonstrate four previously unemphasized points: (1) There is a striking asymmetry of skeletal involvement, with the left side more severely affected. (2) Patients with skeletal defects alone can transmit both skeletal and cardiac defects to their children. (3) Hypoplastic peripheral vessels may be an associated abnormality and can result in difficulty with cardiac catheterization. (4) Electrocardiographic changes of terminal conduction delay in the right anterior chest leads were nor uniformly present in patients with otherwise typical secundum atrial septal defects.

Abnormalities, Multiple↗
PubMed1978

Unusual cardiac, renal and pulmonary involvement in Gaucher's disease. Intersitial glucocerebroside accumulation, pulmonary hypertension and fatal bone marrow embolization.

A 25 year old black woman who had manifestations of Gaucher's disease since one year of age is described. This patient had clinically significant cardiac, renal and pulmonary involvement with Gaucher's disease. Interstitial infiltration of the myocardium by Gaucher cells caused decreased left ventricular compliance and decreased cardiac output. In the kidney, Gaucher cells were present in the mesangium of the glomeruli and the interstitium of the cortex. Also, electron dense, intramembranous granular deposits were seen in glomeruli on electron microscopy. The pulmonary findings included pulmonary arterial hypertension, accentuated basilar deposition of glucocerebroside in the interstitium of alveolar septums and fatal bone marrow embolization.

Adult↗
PubMed1978

Familial spastic paraplegia-clinical and pathologic studies in a large kindred.

Clinical studies of members of a six-generation kindred of familial spastic paraplegia support the diagnostic distinction of a pure form of this autosomal dominant disease. Onset was in the fourth decade or later and symptoms were those of progressive gait difficulties with lower limb spasticity and weakness. Sensor, cerebellar and cranial nerve changes were absent. Pathologic changes in one member were confined to the lateral corticospinal tracts and in the fasciculus gracilis.

Adult↗
PubMed1977

Trousseau's syndrome and other manifestations of chronic disseminated coagulopathy in patients with neoplasms: clinical, pathophysiologic, and therapeutic features.

Analysis of 182 patients with chronic disseminated intravascular coagulopathy and malignancy shows common features. Migratory thrombophlebitis occurred in 96 patients while at least a single episode of thrombophlebitis was noted in 113. Seventy-five of the patients bled and 45 had arterial emboli in various organs. Twelve patients had the triad of thrombophlebitis, hemorrhage, and arterial emboli, often sequentially. Hematologic data showed derangements associated with intravascular coagulation, the most prominent of which were hypofibrinogenemia and thrombocytopenia. Other abnormalities included prolonged prothrombin time, increased fibrinogen-fibrin degradation products, decreased levels of factors V and VIII, cryofibrinogenemia, and microangiopathic hemolytic anemia. Forty-one patients had lesions of non-bacterial thrombotic endocarditis at autopsy; 31 of these had arterial emboli during life. None of the lesions were infected. Mitral and aortic valves were most frequently involved. No single mechanism that causes the disseminated intravascular coagulopathy has been identified. However, cell products--secretions and enzymes--and the cells themselves have been proposed as the procoagulant(s) responsible for the syndrome. In addition to treatment of the underlying neoplasm, symptomatic disseminated intravascular coagulopathy should be controlled. Heparin is the drug of choice for treatment of this problem, very little benefit having been observed with warfarin therapy. Long-term use of anticoagulants is potentially feasible for control of chronic disseminated intravascular coagulopathy, but without effective control of the underlying tumor ultimately will be unsuccessful.

Adult↗
PubMed1972

Gastric acidity in cholera and noncholera diarrhoea.

Gastric acid production, unstimulated and following stimulation with betazole hydrochloride, was measured in Indian men with cholera or acute vibrio-negative diarrhoea-Measurements were made during acute illness and after different periods of convalescence. Men from the same socioeconomic group and from a higher one served as controls. Stimulated acid production was severely reduced during diarrhoea caused by V. cholerae and related vibrios but not during acute vibrio-negative diarrhoea. Acid production returned to stable convalescent values 1-3 days after cessation of diarrhoea. Stimulated acid production was significantly lower in controls from the lower socioeconomic group than in those from the higher socioeconomic group. Achlorhydria that did not respond to betazole administration occurred in 32% of the convalescent cholera patients but in none of the controls or convalescent vibrio-negative diarrhoea patients. It is concluded from these results that diarrhoea produced by V. cholerae and related vibrios is accompanied by transient inhibition of gastric acid secretion, that cholera occurs largely in a population with impaired acid secretion, and that preexisting achlorhydria may predispose to infection with V. cholerae.

Acute Disease↗
PubMedDate not supplied

Molecular cloning of human genes for serum amyloid A.

Three human DNA fragments hybridizing to a mouse cDNA plasmid for the acute phase protein amyloid A have been isolated from the human lambda Charon 4A phage library. Two of these recombinants, GSAA1 (12.8 kb insert) and GSAA2 (15.9 kb insert), share an apparently identical internal region of 9.7 kb while the third, GSAA3 (15.95-kb insert) shows different restriction enzyme fragments. Hybridization studies localize the coding region to single HindIII fragments and suggest that all coding information is present in these recombinants; these fragments have been subcloned into pBR322 and mapped for further study.

Amyloid↗
PubMedDate not supplied

Canine genetic linkage study using heterologous DNA probes.

We have used clones of 17 single-copy human DNA sequences to analyze their counterparts in the genome of the domestic dog by heterologous hybridization. Ten of the 17 sequences represented anchor loci proposed for comparative mammalian mapping. Eight of 17 human clones (including three of the anchor loci) gave clear hybridization signals when used with Southern blots of canine DNA. Five of these eight (including two anchor loci) showed diallelic restriction fragment length polymorphisms in a large kindred of Brittany spaniels and could be used for segregation studies. Several probes chosen from different human chromosomes also were unlinked in the dog. By contrast, linkage was found between the canine counterparts of the closely linked human serum amyloid A gene family. Three markers linked on human chromosome II appeared not to be syntenic in the dog. DNA markers linked to various human genetic neuromuscular diseases were not linked to hereditary canine spinal muscular atrophy which segregates in this kindred. However, there was evidence of possible linkage of this disorder with a canine counterpart of the tyrosinase gene. Segregation studies using heterologous single-copy DNA probes can be performed in dogs, but the level of inbreeding may reduce heterogeneity and limit the power of the analysis.

Animals↗