A patient with a small deletion of the short arm and a partial duplication of the long arm of chromosome 5 is described. The main clinical features include craniofacial dysmorphism, growth failure, developmental retardation, and congenital heart defect. The mother and male sib each carried an inv(5) (p15.3q35) but were phenotypically normal. The possible clinical manifestations of partial dupli...

Patients with diabetes have an increased incidence of heart failure, even after analyses have controlled for coronary artery disease and hypertension. Thus, as diabetic cardiomyopathy (DCM) has become a well recognized entity among clinicians, a better understanding of its development is necessary for the early diagnosis and the future treatment of diabetes-associated cardiovascular disease. In...

The portal hypertension is responsible for many of the manifestations of liver cirrhosis. Some of these complications are the direct consequences of portal hypertension, such as gastrointestinal bleeding from ruptured gastroesophageal varices and from portal hypertensive gastropathy and colopathy, ascites and hepatorenal syndrome, and hypersplenism. In other complications, portal hypertension p...

Leptospirosis has protean clinical manifestations. The classical presentation of the disease is an acute biphasic febrile illness with or without jaundice. Unusual clinical manifestations may result from involvement of pulmonary, cardiovascular, neural, gastrointestinal, ocular and other systems. Immunological phenomena secondary to antigenic mimicry may also be an important component of many c...

The regulatory function of the central nervous system encompasses diverse endocrine, metabolic, and behavioral processes. Many of these originate, are integrated, or are coordinated through hypothalamic pathways or nuclei. Thus, tumors affecting areas projecting to the hypothalamus, tumors of the hypothalamus, and tumors invading or compressing the hypothalamus can produce abnormalities of hypo...

A clinical study of 42 patients with essential tremor is presented. In the case of 12 patients the family history strongly suggested an autosomal dominant mode of transmission, in four the mode of inheritance was indeterminate, and the remaining 26 patients were sporadic cases without an established genetic basis. The tremor involved the upper extremities in 41 patients, the head in 25, lower l...