ABSTRACT
The mucopolysaccharidoses comprise a heterogeneous group of inborn errors of metabolism. Usually these disorders culminate in severe disability over many years, and only seldom result in death in infancy. The prospect of gaining a certain amount of control over the incidence and progression of these rare but costly diseases amply justifies the large amount of effort and expense devoted to research into their causation.
Subject(s)
Mucopolysaccharidoses/physiopathology , HumansABSTRACT
Aminoaciduria is a normal finding, since normal subjects excrete finite amounts of amino acids, the pattern of amino acid excretion varying greatly among individuals. Hyperaminoaciduria can be defined in different ways: by an excessive fraction of total urinary nitrogen; by an increase in the total 24-hour excretion value; or by an exaggerated renal clearance. A generalized aminoaciduria with acidosis and hypophosphatemia distinguishes the De Toni-Fanconi and Lowe syndromes, both of which will be herewith discussed.
Subject(s)
Amino Acids/urine , Fanconi Syndrome/urine , Oculocerebrorenal Syndrome/urine , Renal Tubular Transport, Inborn Errors/urine , HumansABSTRACT
Infectious mononucleosis (IM) is an acute, self-limited lymphoproliferative disorder caused by EBV. The classic features consist of fever, malaise, easy fatigability, pharyngotonsillitis, cervical lymphadenopathy, splenomegaly, subclinical hepatitis, and atypical lymphocytosis. Symptomatic IM occurs in older children and adolescents, whereas the subclinical IM is the rule in toddlers and young children. In general the prognosis is good, even in the more prolonged and serious cases. The laboratory diagnosis relies on the demonstration of heterophil antibody in the serum. Since there is no effective therapy, management is directed toward relief of symptoms and treatment of complications. No effective ways of prevention are at hand.
Subject(s)
Infectious Mononucleosis/microbiology , Herpesvirus 4, Human , Humans , Infectious Mononucleosis/drug therapyABSTRACT
Infections with fungi appear to be increasing in frequency. Children who are debilitated, or are receiving prolonged steroid therapy or long-term antibiotic therapy are particularly susceptible to fungal infections. C. albicans causes infections of various organs. It may also form granulomas and produce a disseminated disease. In this paper the clinical manifestations, diagnosis and treatment of candidiasis are discussed.