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Biomedical subjects

E Rossi

Publications and source records attributed to E Rossi.

At least 379 records · Page 21Linked to original sources

Trisomy 6q25 to 6qter in a severely retarded 7-year-old boy with turricephaly, bow-shaped mouth, hypogenitalism and club feet.

Trisomy for a small terminal segment of chromosome 6q produces a characteristic syndrome of malformations and dysmorphic signs which, on the basis of comparison with a previously published case, may be suspected on clinical grounds. The present case concerns a 7-year-old boy, the son of a carrier mother t(6;14)(q25;qter). The main symptoms are: very severe physical and mental retardation, turricephaly, Cupid's bow mouth with narrow lips, almond-shaped eyes with narrow palpebral fissures and ptosis, micropenis with absence of scrotum, club feet, hammer toes, and extension contractures. In addition, there are a great many minor dysmorphic features.

Abnormalities, Multiple↗

[Course and quantitative evaluation of the lung involvement in cystic fibrosis].

On the basis of clinical observations the course of pulmonary involvement in cystic fibrosis is studied, and an attempt at classification into three severity groups is made. Clinical and radiological findings, quantified by special scores, are presented and correlations between scores and lung function data are demonstrated. Although respiratory function tests - in particular the ratio of residual volume to total lung capacity (RV/TLC) - correlate with the clinical and chest radiographic scores, division into three severity degrees is only reliable for groups of patients. In the individual patient the clinical, radiological and lung function findings must be taken into account together. Assessment according to a scoring system may be helpful.

Child↗

In vitro studies on the metabolism of dibenzo[c,f]-[1,2]diazepine.

Dibenzo [c,f]-[1,2] diazepine is a new compound with a tricyclic structure and a double bond between two nitrogen atoms in positions 1 and 2 of the molecule. Its in vitro metabolism has been studied, incubating the compound with rat liver microsomes. Two metabolites have been identified: dibenzo [c,f] - [1,2]diazepine-1-N-oxide and a monohydroxyderivative in the aromatic ring.

Animals↗

In vivo studied on the metabolism of dibenzo [c,f]-[1,2] diazepine.

The in vivo metabolism of dibenzo [c,f]-[1,2] diazepine (I) was studied after i.p. administration to rats, in order to observe the influence of the heteroatom on the metabolic pathway. Metabolites were separated by chromatography and their structures elucidated by mass spectrometry, by both gas chromatography coupled with mass spectrometry and the direct inlet system. Six metabolites were identified, some of them by direct comparison with authentic samples.

Animals↗

Bone marrow transplantation for severe aplastic anemia. A report of 9 cases.

9 patients with severe aplastic anemia (SAA) were treated with bone marrow transplantation (BMT). 5 were conditioned with cyclophosphamide and received and HLA-identical graft (4 patients) or a mismatched graft (1 patient): 1 rejected the graft on day 30 and died on day 34 during conditioning for a second transplant; 1 died on day 15 with acute and severe graft versus host disease (GvHD) in the absence of haemopoietic engraftment; 3 are alive and complete chimeras at 1,069, 490 and 332 days after transplantation. GvHD developed in 4 patients and was treated successfully in 3 with high dose methylprednisolone and/or antilymphocytic globulin (ALG). 4 patients were conditioned with ALG and received bone marrow from a haploidentical sibling or parent: 1 patient was refractory; 3 patients showed evidence of hematologic reconstitution, but 2 of these required a second course of ALG. 3 patients in this group are alive between 60 and 490 days; 1 patient died on day 121 of HBSAg-negative acute hepatitis.

Adolescent↗

[The mucocutaneous lymph node syndrome or Kawasaki disease].

A case of "mucocutaneous lymph node syndrome" is presented. This syndrome is a nosological entity with clearly defined diagnostic criteria. The disease has mainly been observed in Japan, rarely in other countries. It is named according to its main manifestations on skin, lymph nodes and mucous membranes. We discuss the differential diagnosis and mention the danger of a severe course of this syndrome.

Diagnosis, Differential↗

Relationship between clinical conditions, radiographic findings and pulmonary functions in patients with cystic fibrosis.

Clinical and radiological findings, quantified by special scores, in 36 patients with cystic fibrosis are compared with lung function measurements, including the ratio of RV/TLC and FEV/VC and the arterial blood gases at rest and during exercise. Although respiratory function tests were found to correlate well with both the pulmonary finding score and the chest radiographic score, distinction of three severity groups was possible only by a vector calculation of the blood gases in PaO2-PaCO2-diagram, at rest and during exercise. Thus, measurements of pO2 and pCO2 at rest and on exercise appear to be a helpful adjuvant to routine spirometry for the individual appraisal of the degree of lung involvement, performance and care level.

Adolescent↗

[Parathyroidectomy for secondary hyperparathyroidism: anatomo-surgical observations on experience in 16 treated cases].

The authors, on personal experience, based on parathyroidectomies for secondary hyperparathyroidism, relate the surgical anatomic findings after a brief discussion on indications. They relate beside some atypical seats of parathyroid glands, observed in 11 glands of the 59 removed. Finally they emphasize the importance of accuracy of surgical exploration because that cannot be helped by instrumental methods or by gross pathologic observation.

Adult↗

[Acute renal insufficiency caused by rifampicin].

A case of acute renal insufficiency associated with acute hepatitis that arose in the course of intermittent rifampicine management is reported. Specific reagin-type antibodies were noted in the circulating blood. The clinical, morphological and pathogenetic aspects of the case are compared with those of kidney disease caused by penicillin. While certain clinical features appear in both situations, the histological and immunofluorescence data suggest that two separate pathological entities are involved.

Acute Kidney Injury↗