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A De Negri

Publications and source records attributed to A De Negri.

17 recordsLinked to original sources
PubMed2006

Colour vision defects in asymptomatic carriers of the Leber's hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study.

AIMS: To determine if asymptomatic carriers from a previously identified large pedigree of the Leber's hereditary optic neuropathy (LHON) 11778 mtDNA mutation have colour vision deficits. METHODS: As part of a comprehensive analysis of over 200 members of a large Brazilian LHON pedigree spanning seven generations, colour vision tests were obtained from 91 members. Colour vision was tested one eye at a time using the Farnsworth-Munsell 100 (FM-100) hue colour vision test. The test was administered under uniform conditions, taking into account: ambient light levels, daylight colour temperature of 6700 kelvin, and neutral uniform background. Tests were scored using the FM-100 MS-Excel computer scoring program. Defects were determined and categorised as tritan, deutan, or protan. Categorisation of each dyschromatopsia was based on review of demonstrated axis computer generated plots and age adjusted error scores which coincided with Verriest 95% confidence intervals. Only the axis with the greatest magnitude error score was used to classify the defect. 55 of the 91 test subjects were LHON mtDNA 11778 J haplotype mutation carriers, proved by mtDNA analysis. The remaining 36 subjects were age matched non-blood relatives (off pedigree), who served as controls. RESULTS: 27 of 55 carriers (49.10%) were shown to have colour vision defects in one or both eyes. 13 of the 27 (48%) abnormal tests in the carrier group were tritan defects and the remaining 14 (52%) were deutan defects. Nine of the 27 (33%) abnormals in the carrier group were identified as having bilateral defects. Six of these were deutan, and the remaining three were tritan dyschromatopsias. Only six of the 36 (16.66%) age matched controls were found to have any type of dyschromatopsia. Five (83.3%) of these were deutan defects. The remaining one was a tritan defect. The difference between the two groups using a chi(2) test with one degree of freedom was statistically significant with a p value less that 0.001. CONCLUSIONS: Until now, LHON has always been characterised by a sudden, devastating vision loss. Asymptomatic carriers, those without vision loss, were considered unaffected by the disease. It now appears that asymptomatic carriers of the LHON mutation are affected by colour vision defects and may manifest other subtle, yet chronic, changes.

Brazil↗
PubMed2001

[Laparoscopic or open appendectomy. Critical review of the literature and personal experience].

UNLABELLED: In the era of video-laparoscopic surgery there are a lot of surgeons that still continue to perform open appendectomy. This choice is the consequence of the good results of open appendectomy (clinical, cosmetic, hospital stays and hospital costs). Published trials on laparoscopic appendectomy don't show that it is superior to the open approach. The aim of this study is to critically review the literature on laparoscopic and traditional appendectomies and to report a clinical experience on 86 consecutive patients that underwent open appendectomy. PATIENTS AND METHODS: From September 2000 to March 2001, in the Department of Emergency Surgery of Villa Scassi Hospital in Genoa, 86 patients underwent open appendectomy (32 men; mean age 29.8 years; range 15-54 years/54 women; mean age 22.4 years; range 13-80 years). All the patients underwent blood examinations, abdomino-pelvic ultrasonographys and the women gynecological evaluation. The Authors used, almost always, the Stropeni way of access (cutaneous Mac Burney and right para-rectal incision of the muscles). Discharge has been done as soon as possible. Removed appendices were submitted to histological examination and were classified as normal or pathologic according to the severity of the lesion. Review of articles has been done on Medline. RESULTS: Suspected appendicitis have been confirmed by histological examination that documented 1 normal appendix, 7 chronic appendicitis, 45 acute catharralis, 22 acute suppurative and 11 gangrenous or perforated appendicitis. The specificity of open appendectomy has been 97.6% (100% for men). Post-operative complications were: 2 wound infections and 1 recurrence of an abscess (2.58%). Open appendectomy did carry an hospital bill of 2,500,000 IT liras (1,200 USA dollars) for non complicated appendicitis and 2,000 USA dollars for perforated appendicitis. The early discharge allowed us to spend 119 millions IT liras less in 7 months (99,600 USA dollars in a year). DISCUSSION: The role of laparoscopic appendectomy isn't still established. After a critical review of the literature we can suggest that: 1) laparoscopic appendectomy increase operative time (63 vs 43 minutes: p < 0.0001); 2) laparoscopic approach can reduce the length of post-operative stay in hospital; 3) hospital bill is strongly reduced by open appendectomy (4,274 vs 7,923 USA dollars). On our experience the cost of the hospital for uncomplicated appendicitis is 2,500,000 IT liras (1,200 USA dollars). Otherwise it has been suggested that laparoscopic appendectomy has a better diagnostic accuracy respect to open appendectomy. Some Authors report a percentage of "negative" appendices of 16-50%. In Authors experience the percentage of "negative" appendices is 1.3% and so the diagnostic accuracy is 96% in women and 100% in men, probably because we systematically performed a preoperative abdomino-pelvic ultrasonography and, for the women, a gynecological evaluation. In conclusion, laparoscopic appendectomy should be done in case of suspected appendicitis in women. In the other cases, when there is a strong clinical suspect of appendicitis and, in particular, in case of suppurative appendicitis, the Authors recommend to perform an open appendectomy using the Stropeni approach. In case of perforated appendicitis with abdominal abscess they recommend to perform an open appendectomy using the right para-rectal approach or the median umbilical-pubis approach.

Acute Disease↗
PubMed1999

Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy.

We report the effect on complex I function of the 14484 Leber's hereditary optic neuropathy (LHON) mutation affecting the ND6 subunit gene. The same gene was also reported to carry another mutation, at position 14459, associated with the LHON/dystonia phenotype that induces a reduction of complex I-specific activity and increases the sensitivity to the product decylubiquinol. Given the proximity of both mutations in the ND6 gene, we tested the specific activity of complex I and its sensitivity to myxothiazol and nonylbenzoquinol, both inhibitors at the ubiquinol product site, in platelet submitochondrial particles from nine 14484 homoplasmic individuals, 8 Italians with Caucasian mtDNA haplogroup J (adjunctive 4216 and 13708 mutations), and 1 Tunisian with an African mtDNA haplogroup. The specific activity of complex I was not affected by the 14484 mutation, but the sensitivity to both inhibitors was significantly increased compared with control subjects regardless of the presence of haplogroup J polymorphisms. Analysis of 70 different amino acid sequences of the ND6 subunit indicated that the 14484 mutation affects an amino acid belonging to its most conserved region, which shows local similarities with cytochrome b regions interacting with ubiquinone or ubiquinol in complex III. Our results suggest that both 14484 and 14459 mutations may affect amino acids forming the interaction site of ubiquinol product, and the 14484 mutation produces a biochemical defect resembling in part that already reported for the common 11778/ND4 LHON mutation.

Adult↗
PubMed1997

Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484.

mtDNAs from 37 Italian subjects affected by Leber hereditary optic neuropathy (LHON) (28 were 11778 positive, 7 were 3460 positive, and 2 were 14484 positive) and from 99 Italian controls were screened for most of the mutations that currently are associated with LHON. High-resolution restriction-endonuclease analysis also was performed on all subjects, in order to define the phylogenetic relationships between the mtDNA haplotypes and the LHON mutations observed in patients and in controls. This analysis shows that the putative secondary/intermediate LHON mutations 4216, 4917, 13708, 15257, and 15812 are ancient polymorphisms, are associated in specific combinations, and define two common Caucasoid-specific haplotype groupings (haplogroups J and T). On the contrary, the same analysis shows that the primary mutations 11778, 3460, and 14484 are recent and are due to multiple mutational events. However, phylogenetic analysis also reveals a different evolutionary pattern for the three primary mutations. The 3460 mutations are distributed randomly along the phylogenetic trees, without any preferential association with the nine haplogroups (H, I, J, K, T, U, V, W, and X) that characterize European populations, whereas the 11778 and 14484 mutations show a strong preferential association with haplogroup J. This finding suggests that one ancient combination of haplogroup J-specific mutations increases both the penetrance of the two primary mutations 11778 and 14484 and the risk of disease expression.

DNA Primers↗
PubMed1996

Differentiated thyroid cancer: surgical treatments of 190 patients.

Between 1968 and 1991, 190 patients (51 men, 139 women) with a mean age of 46.3 years underwent surgery for differentiated thyroid cancer (148 papillary and 42 follicular carcinomas). In 29.5% of the cases a concomitant goitre was histologically demonstrated. These patients were significantly older (mean: 54.7 years) (P<0.01). The patients who had previously received cervical radiotherapy were significantly younger (mean: 29.7 years) (P<0.01). The analysis of historical and clinical findings failed to identify predictive factors of biological aggressiveness. Hyperthyroidism occurred in 5.7% of patients: this subgroup did not show any difference in clinical behaviour. Occult carcinoma (14.7%) and multifocality (9.4%) were found more frequently in the glands with a pre-existent goitre (P<0.05), but the clinical significance of these aspects is uncertain. The surgical treatment of choice was total thyroidectomy (135 patients); more conservative procedures were performed only in younger patients with small lesions, without a difference in survival. Post-operatively a permanent recurrent laryngeal nerve injury occurred in four patients (2.1%) and nine patients (4.7%) required a permanent calcium supplementation. Among patients in follow-up (91.6%), those who underwent a total thyroidectomy were studied using a total body scinti scan. A poor prognosis was associated with age (>40 years), pT, stage, pM and symptomatic metastases.

Adenocarcinoma, Follicular↗
PubMed1995

Surgical management of substernal goiter: analysis of 237 patients.

Between 1968 and 1991, 237 patients underwent thyroidectomy for substernal goiter. Sixteen of them presented malignancies (6.8%). Mean age of the 159 women and 78 men was 57.7 years. Twenty-five patients had undergone previous thyroid surgery. The initial symptoms were cervical mass (72%), compression (16.2%), hyperthyroidism (13.1%), hypothyroidism (1.3%), and 5.5 per cent were asymptomatic. Most patients had long-standing goiter (mean duration: 12.9 yrs). All but eight operations were performed through a cervical incision. There were two postoperative deaths (0.8%), both in patients with advanced neoplasms. Early postoperative complications were hemorrhage (0.8%), dysphonia (4.6%), and transient hypocalcemia (2.9%). Five patients (2.1%) required tracheotomy. Complications were more frequent after total thyroidectomy than partial resection (P < 0.05), after surgery for malignancy than for benign disease (P < 0.05), and in complex than in simple forms (P < 0.05). One hundred ninety-four patients were followed after surgery; dyspnea was found in two patients (1.0%), dysphonia in seven (3.6%), and hypoparathyroidism in one. Analysis of our data indicates that 1) substernal goiter arose in elderly patients more than a decade later than cervical goiter; 2) goiters with a "complex" endothoracic development had an increased rate of short and long term complications; 3) cancer occurred in a significant number of patients, without any specific symptoms of malignancy; 4) the group of patients with hyperthyroidism was characterized by a significantly longer clinical history than euthyroid patients; 5) nearly all substernal goiters could be approached through a cervical collar incision; 6) the morbidity and mortality were low also after sternotomy.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1994

[Thoracic surgery with a video endoscopic technic. The authors' own experience].

The authors illustrate the current possibilities and limitations of a leading-edge technique, thoracoscopic surgery, made possible by the enormous technical progress which has led to the creation of specific visual and surgical instruments. On the strength of their personal experience, they list the different diseases which may be treated using video thoracoscopic surgery.

Adolescent↗
PubMed1994

[Tracheobronchial reconstructive surgery: protection of the tracheal anastomosis. Our experience].

In line with data reported in the literature, the authors consider that the careful protection of the tracheal suture with abundant vital tissue is of fundamental importance in the prevention of complications in tracheal resective-reconstructive surgery. This procedure in fact reduces the risk of necrosis and subsequent fistulization of tracheal tissue and prevents decubitus of the suture on the innominate arterial wall, avoiding possible ulceration with fistulization and tracheal hemorrhage.

Anastomosis, Surgical↗
PubMed1994

[Use of minitracheotomy in high-risk pulmonary resection surgery. Results of a comparative study].

Twenty patients undergoing lung resections were randomized into two groups: group 1 (n = 10) received mini-tracheotomy postoperatively and group 2 (n = 10) were control patients. The two groups were similarly matched in pulmonary functions (FEV1 < 1.8 1), performance status and surgical procedures (major pulmonary resections). All patients were monitored by serial chest X-ray examinations, arterial blood gases, clinical assessment and response to chest physiotherapy. Postoperative pulmonary complications of atelectasis/bronchopneumonia developed in 1 patient in group A and 4 patients in group B. Two patients of this last group required mini-tracheotomy to treat the pneumonia. The mean overall duration of mini-tracheotomy was 6.3 days. Five patients presented minor temporary symptoms related to mini-tracheotomy, including voice changes, discomfort and stridor. No long term morbidity was observed. We concluded that the use of mini-tracheotomy is safe and effective in decreasing postoperative respiratory morbidity in high risk patients.

Aged↗
PubMed1992

[The use of different suture materials in thyroid surgery. A statistical evaluation of the immediate and long-term results].

Six groups of patients for a total of 120 cases were examined for cervical wound suture results. Different synthetic absorbable sutures and different suture techniques were employed. Good aesthetic results were always obtained in long-term follow-up. The patients sutured with Polydioxanone, a monofilament with prolonged breaking strength retention, had a lower incidence of local complications.

Absorption↗
PubMed1991

[Surgery in the treatment of pulmonary carcinoma with mediastinal lymph node metastasis (N2)].

This study is based on the analysis of the survival data in patients with N2 disease reported by Martini, Pearson, Shields et al. Many factors appear to influence survival of this group of patients. We made a retrospective analysis of a series of 91 patients with N2 disease between January 1980 and March 1985. Sixty-nine patients (71.5%) presented clinically N2 disease; 44 patients (63.7%) were treated with complete resection and postoperative irradiation, the actuarial five year survival was 11%. Twenty-two patients (24.2%) were discovered to have N2 disease at thoracotomy. Twenty-one patients underwent resection and the actuarial five year survival was 29%. We conclude that surgery can be effective in a highly selective group of patients.

Carcinoma, Bronchogenic↗
PubMed1991

[The surgical therapy of pulmonary aspergilloma. Our experience].

Between 1971 and 1986 11 patients suffering from pulmonary aspergilloma were seen in the thoracic surgery service at Genova-Sampierdarena Hospital. Nine patients underwent thoracotomy. Lobectomy was the most frequent operation. Complications occurred in 3 patients (33%). There were no recurrent symptoms in any of them over a mean follow-up of 4 years. The remaining two patients were treated by instillation of antifungal agents into the aspergilloma cavity. There was no systemic toxicity and in one patient the mycetoma resolved. The authors conclude that pulmonary resection can provide effective long-term treatment, while intracavity infusion of antifungal agent can be a successful nonoperative method in critically ill patients.

Administration, Topical↗
PubMed1989

[Surgical sepsis: myths and realities].

The authors review the modern knowledge of sepsis, asepsis and antisepsis in surgery; they underline some surgeon's customary attitudes and convictions no more scientifically significant today.

Air Microbiology↗
PubMedDate not supplied

[Choledochal calculosis due to a suture thread].

The authors recently observed a patient suffering from recurrent choledochal, postcholecystectomy calculosis caused by suture thread. Given the relative rarity of this pathology, the difficulty of preoperative diagnosis and the possible confusion with other anatomoclinical syndromes, they take this opportunity to make a number of diagnostic and therapeutic comments in the light of the latest literature on this subject.

Cholecystectomy↗
PubMedDate not supplied

[Surgical treatment of multinodular goiter].

A homogeneous series of 361 patients operated on for multinodular goitre was analyzed. Minimum and mean follow-up were 10 and 18.6 years, respectively. In most cases a subtotal or near total thyroidectomy was performed, while total thyroidectomy was reserved for patients with cancer. The goal of the study was to verify the long term outcome of this therapeutic strategy in terms of complications, disease recurrence, need of complementary therapies (TSH-suppressive or substitutive) and reinterventions. Global recurrences were 14.7%, and 4.9% of these needed a second operation for indications similar to those of the first operation. Long term complications were vocal cord palsy 1.1% and permanent hypoparothyroidism 0.3%, while the global complications of reinterventions were 3% (n.s.). Nearly half of the patients had not followed any functional or instrumental check-up for at least 5 years nor undergone any hormonal therapy. Among the patients who had a TSH-suppressive therapy, the recurrence rate was not significantly different compared to the group that had no treatment. On the basis of these data, it seems that subtotal thyroidectomy is adequate intervention for multinodular goitre, as long as the number of clinical recurrences is not significantly high. On the contrary, it might be expected that total interventions, performed in non specialized centers, would introduce a higher rate of complications. The need for TSH-suppressive therapy to reduce recurrences was not proven.

Female↗