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Biomedical subjects

D Pellerin

Publications and source records attributed to D Pellerin.

At least 19 recordsLinked to original sources
PubMed2026

FGF14 (GAA) repeat expansion-associated Ataxia (SCA27B): Expanding the clinical and diagnostic spectrum from the first genetically confirmed case in Argentina.

Spinocerebellar ataxia 27B (SCA27B), caused by an FGF14 GAA repeat expansion, is an emerging cause of late-onset ataxia. We report the first genetically confirmed Argentinean case, initially misdiagnosed as alcoholic cerebellar degeneration. This case highlights diagnostic challenges, phenotypic heterogeneity, and the importance of genetic testing for this treatable disorder.

4-Aminopyridine↗
PubMed1991

[Skin sutures in pediatric surgery. Use of a fast-resorption synthetic thread].

Vicryl Rapide is a new, fast absorption skin suture material. Its spontaneous elimination avoids the conventional stitch removal. The tolerability of this material and the cosmetic results obtained were tested in a paediatric surgery department in elective surgery and in emergency surface wound sutures. Provided certain precautions are taken (tense sutures and sutures of the face must be avoided, since the thread passages are visible in 25 percent of the cases), the material is well tolerated; the cosmetic results and child comfort it provides and the absence of stitch removal makes Vicryl Rapide a first-choice material in paediatric surgery.

Child↗
PubMed1991

[Hirschsprung disease].

From forty years new knowledges about Hirschsprung's disease have dramatically transformed classical concepts of congenital megacolon. The author emphasizes successive steps of knowledges fron his personal experience of 500 patients observed at Pediatric Surgical Department, Hôpital des Enfants Malades, Paris, and own contribution at several research programs on this topic. They concern Radiology, Manometry, Histochemistry, Immunocytochemistry. Using technics of molecular biology, recent progress in knowledge of neural crest cells migration towards myenteric plexus, light etiopathogenesis of the disease. Several pathological associations suggest the genetic origin of the neuro transducers defect. Whatever be the scientific interest of it, clinical lethal risk of early enterocolitis remains a daily evidence. Simple routine precocious deflation of colonic hyperpression is still the most important message to be stressed.

Hirschsprung Disease↗
PubMed1991

[A new mode of pediatric emergency care: the emergency and rapid diagnosis center of the Enfants-Malades Hospital, Paris].

Daily approach and management of routine emergencies at public hospital is often inconvenient. A new mode of welcome and management of surgical and medical pediatric emergencies undergone at the Enfants-Malades hospital, Paris. The concept of rapid diagnosis requires the permanent presence and competence of full responsible senior. Psychological consequences of urgent medical event is diminished. The rate of hospitalisation is dramatically reduced. Using computer and original adequate software increase the quality of services and supply many precise epidemiological informations previously bad known about routine pathology. 21162 patients were registered during the first year of functioning. Only 18% of medical pediatric emergencies and 12% of surgical and traumatological pediatric emergencies required hospitalisation. Those new concept and management of such pediatric emergency unit require special psychological and the technical training of nurses and determined medical staff.

Emergency Service, Hospital↗
PubMed1990

[Urogenital abnormalities associated with anorectal malformations].

The authors presented various data with respect to the frequency (431 cases) of anorectal malformations associated to urogenital abnormalities (26 to 56%). They also indicated the frequent association of these anomalies with a lumbosacral vertebral malformation (28%). The higher the anomaly, the more serious the condition.

Abnormalities, Multiple↗
PubMed1989

Congenital soft tissue dysplasia: a new malformation entity and concept.

We report 185 children with clinical manifestations of various conditions classically described as giant hamartoma, angiodysplasia, congenital hypertrophy, congenital trophoedema, localised gigantism (e.g. macrodactyly), etc. It is proposed to group all these conditions into a single entity: congenital soft-tissue dysplasia (CSTD). According to recent advances in fundamental embryology and cell biology, CSTD appears to be a consequence of embryonal or fetal cell biosynthetic dysregulation. The concept of the CSTD entity leads to a common protocol for clinical investigation and a common therapeutic plan, with special reference to the stability and the benign nature of the condition. Treatment should be confined to improving function rather than attempting to correct cosmetic deficits.

Adolescent↗
PubMed1989

Morphology and rheology of the rectum in patients with chronic idiopathic constipation.

To evaluate whether there is a relationship between the viscoelastic properties of the rectum and its surface, barium enema and rectal accommodation studies were performed under standard conditions in 46 subjects (25 adults, 21 children) with chronic idiopathic constipation. In adults, a significant correlation was found between rectal surface at barium enema and the minimum radius of rectal distention with a balloon necessary to higher wall tension changes (r = 0.68; P less than 0.01). In both adults (r = 0.48; P less than 0.05) and children (r = 0.57; P less than 0.01), negative correlations were found between the surface of the rectum and its elasticity. It is concluded that rectal accommodation studies produce data comparable to those of radiologic examinations and may therefore be used repetitively, and without fear of radiation, as follow-up studies on constipated patients.

Adult↗
PubMed1989

Achalasia of the esophagus in childhood: surgical treatment in 35 cases with special reference to familial cases and glucocorticoid deficiency association.

Achalasia of the esophagus is a relatively rare problem in children, but it can result in severe lung disease, growth retardation, or respiratory death in young infants. Surgical esophagocardiomyotomy remains the treatment of choice, and this report details a 25-year experience with 35 children with achalasia of the esophagus and their long-term postoperative follow-up. Occurrence of achalasia in the first 6 months of life, the existence of familial cases, and the association of achalasia with genetic diseases (familial dysautonomia, glucocorticoid insufficiency, Rozycki syndrome) suggest that achalasia in childhood may in certain cases represent a congenital problem.

Adolescent↗
PubMed1989

[Esophagoplasty in caustic esophageal stenosis in children].

Over a period of 30 years, 53 children suffering from caustic stenosis of the oesophagus were treated by oesophagoplasty. The left colon was most often used (49), though on occasions a Gavriliu gastric tube (3) or the right ileo-colon was used (1). Technical failure occurred in 7 cases with left esophagocoloplasty and this was treated with either a gastric tube (4) or right esophagocoloplasty (3). Oesophagectomy to prevent cancer was carried out on 20 occasions after the oesophagoplasty, on 23 occasions at the same time at the oesophagoplasty, and has yet to be carried out in 6 children. Early mortality was zero; 4 uncomplicated cervical fistulae occurred; 12 anastomotic stenoses were cured by dilatation and 5 required further surgery. Death occurred in 3 children as a late event: one at 2 months, due to difficulty with deglutition, one at 2 years, due to meningococcal septicemia, and one at 3 years due to obstruction from adhesions. Peptic reflux was seen in 3/9 Gavriliu plasties and in 6/45 coloplasties. Functional sequelae were absent in 29 cases and 12 cases suffered occasional episodes of obstruction. The best procedure appeared to be posterior mediastinal esophagocoloplasty combined with resection of the damaged oesophagus.

Burns, Chemical↗
PubMed1989

[Sigmoid motility stimulated by luminal distention. Changes in the motility response in constipation by the slowing down of left colonic transit].

The aim of our study was to develop a new technique of sigmoid manometry using standardized luminal distensions and to compare patterns of colonic motility following distension in normal subjects and in constipated patients. Eight subjects without colonic disturbances and 8 constipated patients with delayed transit time of the left colon as shown by radiopaque markers were investigated. Sigmoid motor activity was recorded by measuring pressure in a distending latex balloon placed at 25 cm from the anus. Inflations were maintained during 250 s and separated by 60 s recovery periods of deflation. Volumes of air (V) were increased until the patient reported abdominal pain (VMT). For each distension level, the resistance to distension of the bowel wall evaluated by the baseline adaptative pressure (P) and the contractile activity (A) quantified by planimetry of the active contractile activity (A) quantified by planimetry of the active contraction waves superimposed to P were assessed. In normal subjects, VMT was 147 +/- 9 ml. P increased linearly with V (p less than 0.03) up to 4,336 +/- 876 Pa. A increased with V until VMT/2 reached the maximum of 389 +/- 72 Pa*; for higher volumes A decreased significantly with to 166 +/- 46 Pa for VMT. Reference to controls, the constipated patients had a decreased VMT (61 +/- 4 ml). P increase at VMT (5,084 +/- 753 Pa) and A maximal value (387 +/- 176 Pa) were not different.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1989

[Surgery of sexual ambiguity: experience of 298 cases].

From 1955 to 1988, 298 children suffering of ambiguous genitalia were operated upon in the Department of Pediatric Surgery, Hospital Necker-Enfants Malades, Paris. 187 were female pseudo-hermaphroditism (of which 85% congenital adrenal hyperplasia). 53 gonadal dysgenesis and 58 male pseudohermaphroditism--Feminizing genitoplasty, including relocation of the clitoris, published by us, in 1961, was made in 238 cases. It was for a long time the best procedure used, whatever be the etiology of intersex, because the results of masculinizing procedures to be used were poor. Using free bladder mucosa graft is a progress which allows an efficient one stage masculinizing genitoplasty, we have made 31 cases of it. Early and precise diagnosis, early medical treatment and psychological approach of intersex by a multidisciplinary team and adequate precocious one stage surgical repair of ambiguous genitalia, have dramatically improved this condition. Prenatal diagnosis of C21 hydroxylase deficiency and preventive control of adrenal hyperplasia of the foetus, by the supply of gluco-corticoïds to the mother in "a risk situation", will in the future allow to prevent virilisation of female foetuses--Surgery will become useless.

Adolescent↗
PubMed1988

Relationship between parietal blood flow studies in the left colon and the rectum in dogs. Colonic pressure and blood flow.

An animal model was proposed to clarify the difference in occurrence of enterocolitis in congenital aganglionosis. When gaseous distention of the colon was localized to the rectosigmoid area, enterocolitis never occurred. On the contrary, when it involved the left colon, enterocolitis occurred in 13 of 15 patients. Intestinal blood flow rates were simultaneously measured in the left colon and rectum of six dogs by using labeled microspheres and expressed in function of the intraluminal pressure. Results show that for elevated values of intraluminal pressure, blood flow was significantly lower in the left colon than in the rectum. These results may explain why ischemia and necrosis occurred more frequently in the left colon than in the rectum.

Animals↗
PubMed1988

DDD pacing: an effective treatment modality for recurrent atrial arrhythmias.

We performed atrial EP studies (atrial substrate evaluation) on 10 patients. These patients had evidence of paroxysmal, sustained, recurrent atrial arrhythmias (7 men and 3 women with a mean age of 64 +/- 15 years). All patients combined a brady-tachy syndrome; 7 patients had a sick sinus syndrome (SSS) and 3 patients a typical vagally induced atrial arrhythmia. No anti-arrhythmic drug was allowed in 3 patients with SSS, 1 drug failed in 4 patients and the combination of 2 drugs failed in 3 patients during the first to eighth years prior to pacemaker implantation. Atrial substrate evaluation was feasible in all these patients off anti-arrhythmic therapy and showed important abnormalities of atrial loco-regional conduction parameters and long refractory periods (RP). The remarkable point was, in 7 patients, a paradoxical improvement in intra-atrial conduction delay at rapid pacing rate. The DDD pacing mode was chosen in all patients. No technical problem occurred during implantation. Atrial pacing rate was programmed to be slightly higher than the mean diurnal heart rate calculated on Holter monitoring. After implantation, the mean follow-up period was 18 +/- 25 months with an average of one Holter every 4 months during the first 2 years. The 7 patients who improved intra-atrial conduction at rapid pacing rate were controlled without drugs, 2 patients were controlled with 1 drug, and 1 patient with 2 drugs. Atrial pacing in the DDD mode in a selected group of patients prevents paroxysmal and drug-resistant atrial arrhythmias. Atrial substrate evaluation is a sensitive tool for assuring the long-term benefit of atrial pacing.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1988

[Organ procurement in children. Surgical aspect].

Today, in every child in situation of organs donor, a multiple organ harvesting is performed which requires surgical techniques more precise, in order to improve the results. Heart, heart-lungs and liver transplantation represent in children, for volume reasons, situations where harvesting must be performed in a child matched for height with the recipient. Today a technique of unique harvesting took place of the initial techniques which required careful dissection of all organs, the preparation of organs being made secondarily, after refrigeration and harvesting. The first step is abdominal and sets up a device of abdominal spraying. The second step is the thoracic dissection, heart or cardio-pulmonary block harvesting being performed by the cardiac surgery team. Finally, the third step consists of the harvesting of the abdominal viscera. It is preceded by a precooling, begun during the period before thoracic dissection. It supposes a global cooling of the liver, kidneys, duodeno-pancreatic block and small bowel. Monoblock dissection then begins with the liberation of the liver and eventually of the duodeno-pancreatic block. After hepatectomy, both kidneys are harvested in monoblock. The intestine, itself, is harvested in last position. Progresses should occur, due to the improvement of the performances of the cooling solutions.

Abdomen↗