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Biomedical subjects

R Humbel

Publications and source records attributed to R Humbel.

At least 37 records · Page 2Linked to original sources
PubMed1979

[Determination of low blood glucose levels in newborns with the reflectance photometer (author's transl)].

The paper reports the examination of a new test strip Reflotest-Hypoglycemie, which was developed specifically for the hypoglycemic range. In 2 series of 110 respectively 120 samples of capillary blood taken from premature and full term infants the blood glucose concentrations were determined using Reflotest-Hypoglycemie and the hexokineasured with the test strip agree well with the results of hexokinase method in a range less than 50 mg/dl. Bilirubin and hematocrit values do not affect the glucose test. Glutathion and ascorbic acid interfere with the test strip method but this error is neglectable because of physiological low concentrations of these substances.

Blood Glucose↗
PubMed1978

[A new type of sialidosis with kidney disease: nephrosialidosis. I. Clinical, radiological and nosological study].

The term nephrosialidosis is proposed to describe a type of oligosaccharidosis in which a glomerular nephropathy develops early and causes death in the early years of life. The clinical and radiological features of the disease are dysmorphic facies, visceral storage disease, early and severe mental retardation and skeletal abnormalities of a type often described in this group of diseases. Foam cells were present in the marrow and, late in the illness, a cherry red spot was present on fundoscopy. The condition is inherited as an autosomal recessive. The leucocytes were deficient in alpha-(2-6) neuraminidase, an abnormality that has also been described in mucolipidosis type I and in other conditions quite distinct from nephrosialidosis. Thus the conditions characterised by this enzyme deficiency are definitely heterogeneous.

Eye Manifestations↗
PubMed1975

[Mannonidosis. Apropos of 5 cases].

Mannosidosis remains an extremely rare entity (9 published cases). Our personal experience, based upon 5 cases, suggests that the diagnosis may be based upon both positive as well as negative clinical and paraclinical data, which differentiate the disorder from other diseases which it resembles. The use of simple methods--thin layer chromatography of oligosaccharides and measurement of serum mannosidase at pH 3.5 and 4.5--render diagnosis easy. It should, however, be mentioned that there exists no valid treatment for this apparently autosomal recessive disorder but that ante-natal detection is theoretically possible.

Bone and Bones↗