Biomedical subjects
Publications and source records attributed to C Faure.
We report a case of a prenatal esophagitis and gastritis revealed at 33 weeks of gestation by the presence of bloody amniotic fluid and dilated intestinal loops that was confirmed by endoscopy at birth. Complete recovery occurred after treatment with ranitidine.
Eleven children with total colonic aganglionosis were studied by esophageal and duodenal manometry. They were separated into two groups: group 1, with ileal involvement, and group 2, without ileal involvement. The results of the digestive motility studies were compared with the extent of ileal involvement of the aganglionosis and with the amount of artificial nutritional support required. All children showed abnormalities on both esophageal and duodenal manometry, suggesting complete digestive tract motility involvement. Recent advances in understanding Hirschsprung's disease and manometrial abnormalities suggest a primary motility disorder in children with total colonic aganglionosis.
Manometrical recordings were made at three levels of the digestive tract in 20 children with chronic intestinal pseudoobstruction (CIPO) defined clinically and histopathologically by deep biopsies showing a neuropathic process. Duodenal manometry showed severe abnormalities with hypomotility in all cases and absence of migrating motor complex in 13 of 20 cases. There was no relation between the histopathologic type and the motility pattern, but the most severe abnormalities were seen in the patients with extensive involvement of the digestive tract and the most severe clinical course. Esophageal manometry was abnormal in 18 of 19 patients, with altered peristalsis consisting of simultaneous, short-lasting, or low-amplitude waves. Rectoanal manometry showed the presence of the rectosphincteric inhibitory reflex in all patients. In conclusion, there is a high frequency of small bowel manometrical abnormalities in CIPO which seem to correlate with the extent of the pathological process and the prognosis of the disease. Esophageal manometry is useful for defining the extent of dysmotility and confirming the diagnosis of CIPO in some cases.
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BACKGROUND: The gene responsible for familial adenomatous polyposis, (APC), has been recently cloned and genetic map with several polymorphic markers has been established. POPULATION AND METHODS: Blood samples (20 ml) were taken from 34 subjects belonging to four families at risk for familial adenomatous polyposis. Nineteen of these 34, less than 20 years old, had one parent having polyposis or dead because of it. Polyposis was diagnosed, in ten of these 19 by endoscopy. Genomic DNA was extracted from peripheral leukocytes and Southern blot analyses were performed in each family, using RFLPs on both sides of the APC locus. RESULTS: DNA analysis identified normal and mutant haplotypes at the APC locus in each family. It was thus possible to follow the segregation of mutant alleles. These results were compared with the anamnestic and endoscopic data. Bearing in mind the risk of recombination when using extragenic markers, RFLPs allowed early diagnosis of APC in pre and/or asymptomatic patients. CONCLUSIONS: Genetic analysis can be used to diagnose APC in affected families, provided the risk of recombination is taken into account. Intragenic microsatellites markers will soon be available. These will provide more information on the APC gene, and hence direct molecular diagnosis of APC.
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We have recently described Avian Leukosis Virus (ALV)-based packaging cell lines that can produce helper-free ALV-based retrovirus vectors with A, B, C, and E envelope host ranges. Here, we report that lacZ retroviral vectors of subgroup C or E can infect helper cells of subgroup A (Isolde) which are then able to produce high titers of lacZ recombinant viruses of subgroup A. Superinfection of helper cells by lacZ recombinant virus was performed by cocultivating packaging cells with two subgroup specificities (A and E), but this did not result in increased recombinant virus titers. This "ping-pong" process caused the emergence of replication-competent (RC) viruses which are shown to result from recombination between the viral sequences of the helper cell lines and the cis-acting sequences of the lacZ recombinant virus.
Intestinal motility was studied in 11 children with a transient enterostomy secondary to a neonatal organic small intestine obstruction (5 total colon Hirschsprung's disease, 2 necrotizing enterocolitis, 1 intussusception, 3 ileal atresia). Eight children presented with a postobstructive enteropathy (severe grade I [5], moderate grade II [3]) and three were considered as controls (grade III). They were assigned to one of the three groups on the basis of the duration of parenteral nutrition and constant rate enteral nutrition needed and the oral feeding tolerance. Barium small intestine transit showed no persistent partial obstruction or peritoneal adhesions. The abnormal inert marker transit times were statistically correlated with the clinical groups as well as duodenal manometric abnormalities. Manometric recordings were characterised by the absence (grade I) or abnormal phase III (grade II) of the migrating motor complex and decreased motility index (grades I and II). This study confirms that this enteropathy is due to a chronic alteration in motility induced by prenatal or postnatal obstructions.
BACKGROUND: Mild disorders associated with persistent neonatal myasthenia gravis may not be recognized for several months. Esophageal dysfunction in this type of myasthenia has never been studied. CASE REPORT: A gastroesophageal reflux was diagnosed during the first weeks of life in a girl; she was not treated. At 8 month-old, she was admitted for febrile convulsions; the pyrexia was due to urinary tract infection by Escherichia coli. 4 days later, the infant displayed weakness of the eyelids and extraocular muscles. The proximal muscles of the arms were also weak. Neostigmine, 0.3 mg subcutaneously, completely removed the symptoms in a few minutes. Neuromuscular transmission tests showed a progressive decrease in eyelid muscle response on repetitive stimulation of the nerve, with a pattern of post-synaptic defects that was corrected by edrophonium chloride injection. Neither the girl nor her mother had acetylcholine receptor antibodies. Overnight monitoring of the distal esophagus pH showed numerous episodes of acid reflux, essentially after the meal. Manometry disclosed abnormalities of both the striated and smooth muscles of the esophagus that were corrected with neostigmine. The girl was given neostigmine and was in good condition one year later. CONCLUSION: Myasthenia could worsen and/or trigger a gastroesophageal reflux by decreasing esophageal clearance and lower esophageal sphincter pressure.
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Nasal mask ventilation (NMV) has been used successfully in chronic restrictive respiratory failure and more recently in acute exacerbations of chronic obstructive pulmonary disease (COPD). This study aimed to evaluate the possible role of NMV in acute respiratory failure (ARF) episodes when mechanical ventilation with endotracheal intubation is questionable. Thirty patients (age, 76 +/- 8.1 years) were treated by NMV during ARF episodes (COPD, 20; other chronic respiratory failure [CRF], 5; chronic heart failure [CHF], 4). All patients were hypoxemic (PaO2, 5.85 +/- 1.62 kPa) and hypercapnic (PaCO2, 8.63 +/- 1.89 kPa) with respiratory acidosis (pH, 7.29 +/- 0.08). In all cases, clinical or physiologic parameters indicated the need for mechanical ventilation, but endotracheal intubation was either not applied because of the age and the physiologic condition of the patients (17 cases) or was postponed (13 cases). NMV was performed using a volume-cycled ventilator and a customized nasal mask. Ventilation was continuous during the first 12 hours and the following nights and was then intermittent during the day. Twenty-one patients improved clinically, within a few hours. Progressive correction of arterial blood gases was observed: PaO2 increased during the first hour, but PaCO2 decreased more slowly. Eighteen patients were able to be successfully weaned from NMV. Twelve patients failed to improve despite NMV: eight of them died and four required endotracheal intubation. There was no difference in the success rate between patients in whom endotracheal ventilation was contraindicated or postponed. Clinical tolerance was satisfactory in 23 patients and poor in seven patients. A return to the respiratory condition was observed in the surviving patients with subsequent discharge from hospital. NMV therefore successfully treated respiratory distress initially in 60 percent of the 30 patients. These results suggest that NMV could be a possible alternative in the treatment of ARF, even in very ill patients, when endotracheal ventilation is controversial or not immediately required.
BACKGROUND: Enteric nerve cells begin to mature during the last trimester of pregnancy and become mature only after birth. The degree of maturation seems to be related to bowel motility. CASE REPORT: A girl was born from a pregnancy complicated by hydramnios, and did not pass meconium before the 64th hr of life. Barium enema on day 4 showed a left microcolon with no distension of the transverse colon. Tests for cystic fibrosis were negative. On day 12, the patient presented with septicemia due to Pseudomonas maltophylia. Parenteral alimentation by central catheter was instituted. Surgical rectal biopsy showed that the number of ganglion cells was normal but the cells were immature. Progressive feeding was possible for the 3rd month of life. A second rectal biopsy at 3 1/2 months showed some remaining immature ganglion cells. CONCLUSION: Immature ganglion cells can account for neonatal functional intestinal obstruction, as has been established for the small left colon syndrome. The progressive loss of symptoms seems to be correlated with histological maturation of the neurological apparatus of the large bowel. Severe complications, such as occlusion, sepsis, nutritional disorders can occur during this long period of functional intestinal obstruction.
Three hundred and twenty-six French families with a cystic fibrosis-affected child who were referred for prenatal diagnosis were analysed by sibship size: 74.2 per cent of the couples had no further pregnancies to term after the affected child, who was deceased in 34.6 per cent of cases. These couples were followed prospectively after prenatal diagnosis and 77 had two or more consecutive pregnancies with prenatal diagnosis. The aim of these couples was to succeed in constituting a family with two normal children.
Production and expression of double-expression vectors which transduce both Neo(r) and lacZ genes and are based on the structure of avian leukosis virus were enhanced by using cis-acting sequences (long terminal repeats and noncoding sequences) from Rous-associated virus-1 and Rous-associated virus-2 rather than those of avian erythroblastosis virus previously used in our constructs. Polyclonal producer cells obtained after transfection of these vectors into the Isolde packaging cell line gave rise to titers as high as 3 x 10(5) lacZ CFU/ml, whereas it was possible to isolate clones of producer cells giving rise to titers of more than 10(6) resistance focus-forming units per ml.
The application of the Ilizarov device to the femur creates several problems: anatomical (transfixion of the thigh), mechanical (asymetrical assembly) and clinical (patient acceptability and duration of treatment). Geometric modifications of the original fixator are proposed. These comprise the use of threaded pins proximally and special connecting pieces. Two large fixators were tested under load and after the introduction of certain variables led the authors to experiment with 18 different assemblies. Four loads were used (compression, flexion in the sagittal and coronal planes and torsion) and stiffness calculated in three dimensions. Three linear and three angular displacements were defined for each type and magnitude of external load. The following sequence of analysis was followed to select the best type of assembly; increased ridigity in torsion; moderate displacement in flexion and axial elasticity. These considerations also apply to the mechanics of fracture healing. After testing under load it was concluded that the original assembly gave the best compromise. The modified assemblies gave a slightly inferior mechanical performance but their geometrical configuration should give better patient tolerance if the following items are used: a proximal arc of 120 degrees, 5 mm diameter threaded pins for the adult and 4 mm diameter for the child.
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