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Biomedical subjects

P Bertin

Publications and source records attributed to P Bertin.

At least 109 records · Page 6Linked to original sources

A locus involved in kanamycin, chloramphenicol and L-serine resistance is located in the bglY-galU region of the Escherichia coli K12 chromosome.

Spontaneous mutants of Escherichia coli K12 displaying an increased level of the kanamycin resistance conferred by plasmid pGR71 were selected. Several mutants obtained in this way apparently carry large chromosomal deletions extending into galU and/or bglY (27 min). This positive selection of deletions allowed detection of a new locus located between galU and bglY. Deletions of this locus are responsible for increased resistance to kanamycin (Irk), decreased resistance to L-serine in minimal medium (Drs) and decreased resistance to chloramphenicol (Drc) when a cat gene is present in the bacteria.

Chloramphenicol Resistance↗

Ehlers-Danlos syndrome, clotting disorders and muscular dystrophy.

Ehlers-Danlos syndrome includes 11 distinct entities. The diversity of this collagen dysplasia and its combination with other abnormalities make it difficult to understand physiopathologically. A case of Ehlers-Danlos syndrome is reported, which is novel owing to its combination with clotting abnormalities and especially with muscular dystrophy. To our knowledge this has not previously been reported. The patient was a young man aged 16 years who presented with Ehlers-Danlos syndrome satisfying Perelman's diagnostic criteria. His father and two brothers had comparable clinical symptoms, but his mother and sister were healthy. The four male subjects had an increased cephalin-kaolin time, reduced levels of factor VIII and Willebrand's factor (but without haemophilia A or Willebrand's disease), and, especially, an abnormal platelet ATP secretion. The proband alone had muscular disease with bilateral quadriceps fatigability and amyotrophy. The muscle enzyme levels were greatly increased, the electromyographic trace was myogenic, and the biopsy showed severe muscular dystrophy. This new observation poses the problem of the relation between clotting abnormalities and collagen abnormalities in the Ehlers-Danlos syndrome. It is difficult to classify this case within any of the 11 known types because of its muscular manifestations. It may perhaps be a fortuitous combination or an extension of the nosological framework of this syndrome.

Adenosine Triphosphate↗

[Pseudohyponatremia and anion gap changes in multiple myeloma].

Pseudo-hyponatremia is a rare condition characterized by a decrease in plasma sodium concentration associated with a normal or increased effective plasma osmolarity. We present the case of a 62 year old woman with multiple myeloma (IgG) who had a plasma sodium of 84.5 mEq/l (as measured with flame photometry) and an anion gap of -8.8 mEq/l. However, when determined with an ion-selective electrode, plasma sodium was 135 mEq/l. The patient was treated with chemotherapy and did not receive sodium. One week later, plasma sodium--again measured by flame photometry--was 134 mEq/l and the anion gap 4.0 mEq/l. The pathophysiological and clinical aspects of pseudo-hyponatremia and the anion gap are discussed.

Acid-Base Equilibrium↗

[Ileo-ileal intussusception over an islet of heterotopic gastric mucosa without Meckel's diverticulum].

Three laparotomies have been necessary to find the origin of intermittent episodes of abdominal pain for eleven years in a girl: appendectomy at the age of three, surgical exploration at nine, and emergency laparotomy at fourteen for acute intestinal obstruction: ileo-ileal, secondary iléo-colic intussusception, reduction and ileal resection discovering an 2 x 2 cm area of normal fundic gastric mucosa. Heterotopic gastric mucosa in the small bowel is a rare congenital anomaly (12 pediatric and 5 adult cases previously reported in the literature). These folds of gastric mucosa are located more often in the terminal ileum than in the jejunum and act as the leading part of intussusception: the clinical finding were usually those of subacute obstruction of the small intestine and can occur during several years before an intestinal obstruction leading to surgery: after reduction of the intussusception, intestinal resection must be done. Intestinal ulcerations due to peptic secretion of the ectopic gastric mucosa with intestinal bleeding and anemia or perforation are less frequent.

Adolescent↗

Cholelithiasis and ileal pathology in childhood.

Primary cholelithiasis is rare in childhood. A particular etiology has appeared over the last few years in connection with unusual physiological situations. Three cases of cholelithiasis after ileal atresia or resection are presented in children of 1, 1, and 7 yr. Another case is presented after abdominal irradiation for Wilms' tumor and ileal resection in a child of 7. The pathogenesis is discussed, raising the question of the interruption of the enterohepatic circulation of bile salts.

Bile Acids and Salts↗