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Biomedical subjects

M Ruggieri

Publications and source records attributed to M Ruggieri.

At least 73 records · Page 4Linked to original sources
PubMed1996

Hypertrichosis, coarse face, brachydactyly, obesity and mental retardation.

A 17-year-old boy with a complex array of dysmorphic features including generalized hypertrichosis of the terminal hair, coarse face, short stature, obesity, brachydactyly with broad proximal phalanges, small and dyschromic nails, and mental retardation is reported. Virilizing endocrinopathies, obesity/mental retardation syndromes, and conditions with hirsutism associated with small or absent nails are discussed and particular emphasis is given to the syndrome of "generalized hypertrichosis terminalis and gingival hyperplasia" which shares some features with the patient.

Abnormalities, Multiple↗
PubMed1995

Spondyloperipheral dysplasia.

We present a patient with spondyloperipheral dysplasia, a rare skeletal dysplasia which is characterized by vertebral body abnormalities (platyspondyly, end-plate indentations) and brachydactyly. Our patient also manifested a characteristic "pugilistic" face, sensorineural deafness and mental retardation. This chondroosseous dysplasia appears to be inherited as an autosomal dominant disorder. It appears that there is considerable clinical variability in spondyloperipheral dysplasia.

Adult↗
PubMed1995

Primary osteoma cutis--multiple café-au-lait spots and woolly hair anomaly.

An 11-year-old girl with typical features of primary osteoma cutis is reported. She demonstrated multiple areas of subcutaneous, asymptomatic, slow-growing nodules, mostly localized at the extremities. Radiographic evidence of soft tissue calcification and histologic confirmation of ectopic bone formation was obtained. She also showed café-au-lait spots, woolly hair and intrauterine growth deficiency.

Bone and Bones↗
PubMed1995

Molecular bases of CRM+ factor X deficiency: a frequent mutation (Ser334Pro) in the catalytic domain and a substitution (Glu102Lys) in the second EGF-like domain.

The presence of gene lesions in coagulation factor X (FX, Stuart factor) was investigated in asymptomatic subjects with FX deficiency characterized by the presence of dysfunctional molecules in plasma, as demonstrated by the discrepancy between clotting activity and antigen level. A missense mutation (Ser334Pro) in the catalytic domain was found in three unrelated families in both the homozygous and the heterozygous conditions, and also in the compound heterozygous form with the substitution of Lys for 102 Glu. None of the mutations was detected in 40 unrelated subjects from the same geographic area. The Ser334Pro mutation affects a serine protease region characterized by extensive variation in the coagulation factors but conserved in mammalian factor X molecules. The Glu102Lys mutation affects a residue of the second EGF-like module also conserved in protein C. Both mutated residues are surface-exposed and found in protein regions suggested to be involved in macromolecular interactions which are impaired in the dysfunctional molecules.

Base Sequence↗
PubMed1995

Aneurysmal bone cyst of the acromion: a case report.

The case of 6-year-old girl with an asymptomatic aneurysmal bone cyst of the acromion is reported. Such tumors are rarely located in the scapula and are especially rare in the acromion. The diagnosis was confirmed by biopsy and surgical resection of the lesion. Roentgenographic, CT and histologic features of the cyst are discussed.

Acromion↗
PubMed1994

Lateral dermoid cyst of the tongue: case report.

The case of a young patient with a lingual dermoid cyst is presented. This case is unusual for the occurrence of the mass within the tongue, for its lateral localization, and for the association with other minor anomalies such as hypomelanotic areas, synophrys, hypertelorism and low-set and poorly structured ears. Bilateral broad, short fifth metacarpals with low-set fifth fingers of the hands were also present. A full clinical history, instrumental data, subsequent operative procedures and hystologic examination of the cyst, are described.

Abnormalities, Multiple↗
PubMed1993

[Experience with rIL2 in the treatment of metastatic renal carcinoma].

Eight patients with metastatic renal cell carcinoma, all nephrectomized, were treated with rIL2 continuous i.v. infusion or subcutaneous administering (+/- INF). Six patients alive. Continuous infusion is possible event out of Intensive Care Unity. Adverse effects, sometimes serious, rapidly decrease with suspension. Subcutaneous infusion is more easy and with lower adverse effects. We don't know methodic of which can give more security.

Aged↗
PubMed1993

[Interferon and vinblastine in advanced renal carcinoma].

19 patients with renal adenocarcinoma and mets were treated with INF alfa 2b (10 x 10(6) U/m square s.c. three times weekly) plus VBL (0.1 mg/kg every 3 weeks). We followed up the patients for 12 weeks with monitoring of major parameters. The outcomes have been positive in 16.6% of the cases with mean survival of 20.7 months. We point out the efficacy in lung mets. The outcomes of therapy with INF alfa 2b plus VBL are unsuccessful and we state that an alternative solution could be interleukin 2.

Adenocarcinoma↗
PubMed1992

[Leiomyoma of the esophagus].

In this paper the Authors report a review of the clinical records from 1972 to 1985 of the Institut of IV Clinica Chirurgica of Rome of esophageal leiomyoma. We report on 7 cases: three males and four females. Their ages ranged from 37 to 78 years (mean 54 years). The most frequent symptoms were dysphagia (71.4%), loss weight (57.1%) and slight epigastralgia (42.8%). Barium meal, esophagoscopy, esophageal manometry, TAC are the most sensitive procedures for a correct preoperative diagnosis. The therapy of choice is surgical treatment. However surgery is conservative: extramucosal enucleation of the leiomyoma is the procedures of choice. The postoperative course was free of complications, the long-term results were excellent.

Adult↗
PubMed1992

[Staplers and pulmonary surgery].

The Authors report their experience with staplers (model T.A. 30) in lung surgery: 152 stapled sutures were, in fact, performed in the IV Surgical Department of the University "La Sapienza" of Rome, during the period 1980/90. The use of staplers assures a perfect closure and prevents granulomas due to suture materials in typical as well as atypical lung resections.

Adenocarcinoma↗
PubMed1990

Diagnosis of interstitial cystitis.

We reviewed clinical and histological findings in 55 patients with interstitial cystitis and 21 with voiding dysfunction secondary to other pathological conditions. Of our interstitial cystitis patients 36% would fail to meet the research definition proposed at a recent National Institutes of Health workshop. Detrusor mastocytosis was present in 64% of our interstitial cystitis patients compared to 80% of the noninterstitial cystitis group. There was no statistically significant difference in mean detrusor mast cell counts between interstitial cystitis and noninterstitial cystitis patients. Biopsies of 12 patients who did meet the proposed National Institutes of Health research definition were evaluated by immunohistochemical techniques. Early results are inconclusive. These studies indicate that interstitial cystitis is a complex disease whose diagnosis presently still must be made from a symptom complex rather than from objective histological criteria, including mastocytosis or the presence of any specific immunoreactive cell.

Cell Count↗
PubMed1990

[100 cases of bronchial mechanical sutures].

The Authors report their experience with stapler model T.A. 30 in lung resections; 100 stapled sutures were carried out in the IV Surgical Department of the University "La Sapienza" of Rome, during the period 1980-88. The use of stapler with two rows of staples allows a secure closure of the bronchial stump. Moreover, it prevents granulomas caused by suture material. The bronchopleural fistulas, serious complications of manual suturing, did not occur. Finally, this method is simpler and rapidly feasible in comparison with classic ones.

Bronchi↗