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Biomedical subjects

V Jasonni

Publications and source records attributed to V Jasonni.

At least 73 records · Page 4Linked to original sources
PubMed1994

Neuronal intestinal dysplasia: clinical experience in Italian patients.

The authors present a review of 431 children biopsied and studied with the following histochemical and immunohistochemical techniques: 1) acetylcholinesterase activity; 2) alphanaphthylesterase activity; 3) S-100 protein immunohistochemical technique; 4) glyoxylic acid method. Two hundred forty-eight patients of our series presented different forms of dysganglionosis, 12 of them (4.8%) presenting neuronal intestinal dysplasia type B. In 7 cases, NID type B was diffuse, whereas in 5 recto-colonic NID type B was confined to the splenic flexure. Male:female ratio was 9:3. Familial recurrence was present in 2 of the 12 cases of our series, affected by severe neuronal intestinal dysplasia extended to the small intestine, associated with intestinal malrotation and short bowel syndrome. Four of the 7 cases of diffuse NID type B and 2 of the 5 cases of rectocolonic NID type B were surgically treated. Three patients with diffuse NID died from sepsis within the 2nd year of life. This study confirms that NID type B is a form of dysganglionosis which can be diagnosed in a Mediterranean country if histochemical techniques are applied in the study of a large series of constipated and pseudo-Hirschsprung patients. From a pathogenetic point of view, the authors compared the histochemical findings of biopsies from their series of NID patients with those of recto-colonic biopsies from patients with MEN II B syndrome. The similarity of GI symptoms in MEN II B and NID pediatric patients suggests that the two disorders could be the result of mutations affecting the same domain of the RET proto-oncogene.

Acetylcholinesterase↗
PubMed1994

[Surgical treatment of thoracic wall malformations].

Anterior chest wall deformities in children are the expression of some congenital malformation such as Poland's syndrome and pectus excavatum. The surgical treatment of these malformations affecting children is aimed at correcting large wall defects and stabilizing the chest wall, assuring at the same time chest harmonious growth and postoperative functional assessment. We present the results of the treatment of 2 cases of Poland's syndrome, 20 cases of pectus excavatum and 2 cases of pectus carinatum, with a follow-up of 6 months--9 years.

Cartilage↗
PubMed1993

Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly: report of a new patient with additional findings.

A new ectodermal dysplasia syndrome was reported by Bork et al. in 1987 (Hautarzt 38:342-347). The syndrome consisted of hypotrichosis with the typical SEM (scanning electron microscopy) changes of uncombable hair, retinal pigmentary dystrophy, juvenile cataract, oligodontia, brachydactyly with brachymetacarpia; it was inherited as an autosomal dominant trait. We describe a sporadic case and add further clinical findings to expand the spectrum of this rare syndrome.

Bone and Bones↗
PubMed1993

[Necrotizing enterocolitis].

Necrotizing enterocolitis (NEC) is an important cause of neonatal morbidity and mortality. During the last few years, there was an increase in the incidence of this disease, associated with a better knowledge of NEC, and an increase in survival rate, associated with the development, even from a technological point of view, of neonatal intensive care units. In this study, the authors first perform the diagnostic procedures and describe the anatomical and clinical characteristics of NEC, then evaluate by standard criteria a series of patients observed during the last 5 years, revising the various surgical treatments adopted and the results obtained.

Colon↗
PubMed1993

Deleted and normal chromosome 10 homologs from a patient with Hirschsprung disease isolated in two cell hybrids through enrichment by immunomagnetic selection.

A cytogenetically detectable deletion, del(10) (q11.2-->q21.2), was observed in a patient with total colonic aganglionosis with small bowel involvement (TCSA), a variant of Hirschsprung disease (HSCR). A similar deletion is present in another TCSA patient (S.M. Huson, personal communication). To reveal cytogenetically undetectable deletions of chromosome 10 in further patients, we developed a strategy for mapping chromosome 10 DNA markers with respect to the observed deletions. To this end, the two chromosome 10 homologs (deleted and normal) were segregated in two distinct somatic cell hybrids obtained after fusion of the patient's fibroblasts with a Chinese hamster ovary cell line (YH21). Hybrid cells containing chromosome 10 were selected for the expression of the gene coding for the beta subunit of the fibronectin receptor (FNRB), which maps to 10p11.2, using a monoclonal antibody against FNRB. Hybrid 185.O contains the deleted chromosome, whereas hybrid 179.Q contains the nondeleted one. Southern blot and PCR analysis of DNA from these two hybrids mapped the markers RBP3H4, RET, D10S15, D10S5, D10S22, and D10S88 inside the deletion and D10S170, CDC2, EGR2, and D10S19 outside the deletion. MEN2A and MEN2B have recently been mapped within the centromeric region closely linked to RBP3 and D10S15 (which are located inside the deletion) and cosegregate with HSCR in at least two different pedigrees. Since HSCR, MEN2A, and MEN2B represent defects of neural crest cell development, we hypothesize that they originate from mutations in different genes clustered in the centromeric region of 10q.

Animals↗
PubMed1992

New concepts in preoperative imaging of anorectal malformation. New concepts in imaging of ARM.

In this study of 14 patients with anorectal anomalies CT and MRI were employed for preoperative assessment. The use of a pressure enhanced water soluble enema via the colostomy proved to be an extremely efficient method for showing a fistula. MRI studies were enhanced by the use of vaseline oil and in one case this technique was used prior to surgery to provide important information by injecting through a perineal fistula. CT and axial MRI proved to be more valuable than sagittal MRI which is only useful for the length of the atretic segment. The authors consider that a combined approach using pressure enhanced water soluble enema and MRI will provide the most valuable preoperative information to plan a successful operative approach and enable an accurate prognostic evaluation of continence in these difficult and complex patients.

Anal Canal↗
PubMed1992

Autosomal recessive microcephaly with early onset seizures and spasticity.

We describe two siblings, a male and a female pair, born of consanguineous parents, affected with a rare genetic form of congenital microcephaly. The clinical syndrome is characterized by early onset myoclonic seizures, spasticity, and profound psychomotor retardation without detectable brain malformations. To date, only two kindreds and one sporadic case with a similar clinical picture have been observed and reported (Tolmie et al. 1987, Bundey & Griffiths 1977). The severity of the neurological features and their perinatal onset differentiate the syndrome from the more common autosomal recessive microcephaly with spasticity/seizures.

Child, Preschool↗
PubMed1991

[Blocked transcolostomy colonography in the identification of anorectal malformations].

The study of anorectal malformations has considerably improved over the last years also thanks to the use of such diagnostic techniques as CT and MR imaging, which allow a better knowledge of perineal region anatomy and the demonstration of the development of sphincteric structures. The most important diagnostic phase for the identification of anorectal malformations consists in the detection of rectal fistulas. The authors report on their experience with barred water-soluble contrast enema in the study of anorectal anomalies. Over 2 years, 23 patients with anorectal malformations (10 males and 13 females) previously submitted to colostomy, were studied with this method. Fistulas were detected in 21 cases; in the extant 2 patients (both females affected with Down syndrome), no fistulas were detected, not even at surgery, which was posterior sagittal anorectoplasty according to Peña-De Vries. In our experience, the most frequent anomalies were recto-bulbo-urethral fistula in males and low recto-vaginal fistula in females. The authors suggest the use of this method as a routine diagnostic examination, because of its proven reliability.

Anal Canal↗
PubMed1991

[Computed tomography vs. magnetic resonance in the diagnosis of anorectal anomalies].

Anorectal malformations include a variety of anatomical anomalies which are often difficult to assess. Thirty-four patients (age range: 1 month-19 years) were studied over a 4-year period, 14 of them preoperatively and 20 postoperatively. In addition to inverted lateral plain films, a barred Iopamiro enema was performed in 13 of 14 cases by a Foley's catheter via colostomy. Endocolic pressure could thus be increased, which allowed the detection of rectal fistulas in 11 of 13 cases. Preoperative CT was performed in 9 cases, and MRI in 5. Both CT and axial MR scans provided accurate images of sphincteric muscles: they were well developed in 7 patients and poorly developed in 6; in 1 case the muscles were not identified. Sagittal MR scans only demonstrated the distance between blind pouch and perineum. Sagittal MRI also provided images of the spine (1 patient exhibited tethered cord). In the postoperative management, except for severe sacral anomalies, miscentered puborectal muscle and hypoplastic musculature were observed as the most frequent causes of fecal incontinence in patients treated with abdomino-perineal pull-through of the colon. To select the cases who needed reoperation, most frequently secondary PSARP, 17 patients were studied by CT and 7 by MRI; both techniques were employed in 4 cases. In 6 patients good development of sphincteric musculature and neo-anorectum correctly positioned within were observed. In 4 cases the neo-anorectum was correctly positioned, but sphincteric muscles were too hypoplastic to allow good continence; in 10 patients with incontinence, the neo-anorectum was seen outside sphincteric musculature: in 2 cases the latter was well developed (1 patient had had severe surgical damage to levator ani), while in 8 it appeared to be poorly developed. In our experience, postoperative CT allowed a correct evaluation to be made, whereas MRI failed to yield additional information.

Adolescent↗
PubMed1991

[Achalasic megaesophagus with onset in the 1st year of life. A case report].

We report a case of esophageal achalasia in a nine months old baby. Recurrent cough and cyanosis were the most important clinical findings. Esophagomyotomy remarkably improved the clinical symptoms. Disorders of esophageal motility may be an important cause of respiratory emergencies in the first year of life.

Combined Modality Therapy↗