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Biomedical subjects

J Kammerer

Publications and source records attributed to J Kammerer.

10 recordsLinked to original sources
PubMed1979

Hemoglobin Bougardirey-Mali beta 119 (GH2) Gly replaced by Val. An electrophoretically silent variant migrating in isoelectrofocusing as Hb F.

Hemoglobin Bougardirey-Mali was detected by isoelectrofocusing during a screening in a 32 years old African, a native of Mali. This abnormal Hb, representing 35% of the total, exhibited the same pI as that of Hb F. In contrast, it was indistinguishable from Hb A in all the electrophoretic systems tested, and equally by its resistance to alkaline denaturation. Structural studies have shown that the abnormality was localized on the beta chain. A fingerprint of the tryptic digest of the aminoethylated beta chain indicated the absence of the beta T12 b. The presence of an abnormal beta T12 b was suspected in the T14-15 spot, as indicated by the intensity of staining and its amino acid composition. beta T12 b was isolated by chromatography on PA 35. Its sequential analysis by manual Edman-dansyl degradation showed that glycine 119 was replaced by a valine residue. This mutation is localized in a alpha 1 beta 1 contact, which makes the molecules slightly unstable. The clinical consequences of this mutation seem to be minor; similar observations have been reported for the other Hb mutated at the same locus, i.e. Hb Fannin-Lubbock beta 119 Gly leads to Asp.

Adult↗
PubMed1979

[Clinical and biological aspects of macroamylasemia (author's transl)].

The authors report a case of macroamylasemia in which the diagnosis was made with some difficulty. A hyperamylasemia was discovered after the patient, an alcoholic, had been hospitalized for atypical abdominal pain and weight loss, and this was thought to be due to an acute episode of chronic pancreatitis. The absence of an incrase in amylasuria suggested the presence of a macroamylasemia, and both diagnoses were confirmed by suitable exploratory investigations. Alcoholic cirrhosis was also present. The two main known types of macroamylase and their iatrogenic variant are described as well as the incidence of this biological anomaly in the general population. Confirming the presence of this anomaly in the plasma is a delicate and complex procedure. Simultaneous study of amylase-creatinine clearance ratio was thought to be a decisive test, but this does not appear to be true.

Amylases↗
PubMed1979

[In vitro and in vivo stability of macroamylase (author's transl)].

A complex case of macroamylasemia in an alcoholic subject with chronic pancreatitis is presented here. The existence of a macroamylase, suggested by hyperamylasemia associated with low amylasuria and by values of the ratio amylase clearance/creatinine clearance lower than 1%, was confirmed by the profile of the amylase activity after filtration on gel of the patient's serum. The macroamylase activity of samples taken at various times over a period of seven months presents a variable characteristic: lowered at the beginning of the fourth month, it rose suddenly following a portal systemic encephalopathy, then became nil a fortnight later. This oscillating character found during the following months is not associated with the values of the serum amylase. The subject's pancreatic juice had no macroamylasic activity but the pancreatic amylase, in vitro, may be feebly linked to a constituant of the patient's serum. The nature of the protein associated with the amylase was not discovered. To in vivo variations of the macroamylase activity may be added the notion of in vitro variability for a sample conserved at -18 degrees C.

Alcoholism↗
PubMed1978

[Upper gastrointestinal bleeding: comparison between the diagnostic conclusions of emergency fibroscopy and those of surgery (author's transl)].

Amongst 1035 patients who underwent oesophago-gastro-duodenal fibroscopy as an emergency for an upper gastrointestinal haemorrhage between January 1973 and May 1977, 100 required surgery. The operative findings were compared with those of endoscopy. In 92 cases, surgical exploration found the same lesions that the endoscopist had reported as being responsible for the haemorrhage. In 14 of these patients, surgical exploration provided complementary data to the endoscopic findings. In the other 8 patients, there was disagreement between the surgical and endoscopic findings. In particular, there were 5 diagnostic errors: 2 false negatives, 1 error of localisation of the lesion and 2 errors of interpretation. The earlier endoscopy is performed, the better are the results: discovery of the bleeding lesion and elimination of other non-haemorrhagic lesions.

Diagnostic Errors↗