Mixing and standardizing gases for use in measuring pulmonary function.
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Carbon Dioxide↗
Biomedical subjects
R Christopher
Publications and source records attributed to R Christopher.
Type Ib glycogenosis.
Type Ib glycogenosis is a rare glycogen storage disorder resulting from a defect in the enzyme, glucose-6-phosphatase microsomal translocase. We report a case of Type Ib glycogenosis in an 18 month-old male child who presented with a history of hypoglycemic seizures and recurrent infections and had a massive hepatomegaly, recurrent hypoglycemia, hyperuricemia, hypertriglyceridemia, neutropenia and fasting lactacidemia which decreased sharply on glucose administration.
Glycogen Storage Disease Type I↗
Arginase deficiency.
Hyperargininemia due to arginase deficiency is a rare, inherited, urea cycle disorder. We report a case of arginase deficiency in a 5-year old boy presenting with mild hyperammonemia, hyperargininemia, and dibasic aminoaciduria.
Child, Preschool↗
GM2 gangliosidoses: a review of cases confirmed by beta-N-acetylhexosaminidase assay.
The inborn errors of GM2 ganglioside metabolism cause GM2 ganglioside to accumulate within the lysosomes of the nerve cells. The majority of the patients are infants with the Tay-Sachs form of the disease associated with a severe deficiency of beta-N-Acetylhexosaminidase A (hexosaminidase A). Both Hexosaminidase A and B are deficient in Sandhoff disease. The serum total hexosaminidase and the percentage of hexosaminidase A and B were estimated in 449 patients who presented with progressive mental-motor retardation. Three cases of Tay-Sachs disease and two cases of Sandhoff disease were detected. They presented with exaggerated startle response to acoustic stimuli, seizures, optic atrophy and retinal cherry red spots in addition to psychomotor retardation. One case of Sandhoff disease had hepatosplenomegaly and skeletal deformities.
Child, Preschool↗
Human immunodeficiency virus type 1 antigenaemia is enhanced in patients with disseminated cytomegalovirus infection and deficient T lymphocytes.
We have studied 61 patients with the acquired immunodeficiency syndrome (AIDS) regarding the relationships between disseminated cytomegalovirus (CMV) infection with CMV retinitis, HIV1 antigenaemia and CD4+ and CD8+ T-cell deficiency. HIV1 p24 antigenaemia was present in all patients with CMV retinitis (at a high concentration), but in only 28% of patients without retinitis (at a low concentration). Compared to patients without retinitis, those patients who developed retinitis had lower CD4+ and CD8+ prior to and during AIDS. CMV may contribute to deficiencies of T lymphocytes in patients with AIDS.
Acquired Immunodeficiency Syndrome↗