Our data suggest that BRAF V600E mutation is associated with high-risk PTC and in particular in follicular variant with invasive tumor growth.

Endoscopic surgery for primary hyperparathyroidism (PHPT) started in 1996 with a parathyroidectomy performed by Michel Gagner. The technique we propose and have been using for 6 years is based on a unique central access and external retraction. From February 1997 to October 2003, 370 of 520 patients affected with PHPT (71%) underwent minimally invasive video-assisted parathyroidectomy (MIVAP). There were 72 men and 298 women, with a mean age of 55.8 years. Twenty-four patients (6.5%) of the 370 in this series underwent MIVAP under loco-regional anesthesia, and the others had general anesthesia. Eleven patients were lost to follow-up. Surgical cure of PHPT was achieved in 353 patients (98,3%), as confirmed by a median follow-up of 35.1 months (range: 2-82 months). Video-assisted exploration was successfully performed in 350 patients (94%). The mean operative time was 36.2 minutes. In 21 cases (5.6%) a concomitant procedure was performed: a thyroid lobectomy in 14 cases and a total thyroidectomy in 7 cases. Patients were generally discharged the day after surgery. Most of the patients (91%) were satisfied with the cosmetic result 6 or more months after the procedure. Complications developed in 14 cases: 10 cases (2.7%) of transient hypoparathyroidism 3 cases (0.8%) of definitive palsies of the recurrent nerve, and 1 case of postoperative bleeding (0.27%). After 6 years of experience, MIVAP appears to be as safe and curative as traditional surgery, with better cosmetic results and better postoperative outcome.

The results confirm the high frequency of ITC. ITC was more frequent in euthyroid patients than in thyrotoxic patients (P < 0.03). Sex, age, thyroid volume and interval between diagnosis and surgery did not significantly influence its incidence. The majority of ITC was represented by microcarcinomas, but in approximately 25% of patients, the tumour size was greater than 2 cm. The role played by FNAC in excluding malignancies proved to be fairly inconclusive.

BACKGROUND: In the last decade, development of videolaparoscopic surgery allowed several operations to be performed with minimally invasive techniques, making them less invasive and painful. Neck surgery was also involved in this effort, in spite of the skepticism shown by some authors. STUDY DESIGN: Minimally invasive video-assisted thyroidectomy was developed in 1998, and since then, about 600 operations have been performed. Access was the same as was previously described for parathyroidectomy; it was based on a small central incision (1.5 cm) and on external retraction without neck insufflation. RESULTS:From July 1998 to October 2003, 579 patients were selected from 5,450 for minimally invasive video-assisted thyroidectomy. The operation consisted of a total thyroidectomy in 312 patients and lobectomy in 267 patients. Mean operative time was 41 Ϯ 19.5 minutes (range 15 to 120 minutes) for lobectomy and 51.6 Ϯ 18.8 minutes (range 30 to 140 minutes) for total thyroidectomy. Postoperative hospital stay was 24 hours (overnight discharge) for all patients. Complications were postoperative bleeding (0.1%), recurrent nerve palsy (1.3%), and definitive hypoparathyroidism (0.2%). CONCLUSIONS: After 5 years of experience using this approach for various indications, we achieved a good esthetic result with an operative time comparable to that of conventional open surgery. Minimally invasive video-assisted thyroidectomy was found to be a safe operation, with advantages over traditional procedures represented by better cosmetic outcomes and postoperative course, as demonstrated by visual analogue scales and statistically analyzed numeric scales.

The pathogenic mechanism of a G44A nonsense mutation in the NDUFS4 gene and a C1564A mutation in the NDUFS1 gene of respiratory chain complex I was investigated in fibroblasts from human patients. As previously observed the NDUFS4 mutation prevented complete assembly of the complex and caused full suppression of the activity. The mutation (Q522K replacement) in NDUFS1 gene, coding for the 75-kDa Fe-S subunit of the complex, was associated with (a) reduced level of the mature complex, (b) marked, albeit not complete, inhibition of the activity, (c) accumulation of H 2 O 2 and O 2 . in mitochondria, (d) decreased cellular content of glutathione, (e) enhanced expression and activity of glutathione peroxidase, and (f) decrease of the mitochondrial potential and enhanced mitochondrial susceptibility to reactive oxygen species (ROS) damage. No ROS increase was observed in the NDUFS4 mutation. Exposure of the NDUFS1 mutant fibroblasts to dibutyryl-cAMP stimulated the residual NADH-ubiquinone oxidoreductase activity, induced disappearance of ROS, and restored the mitochondrial potential. These are relevant observations for a possible therapeutical strategy in NDUFS1 mutant patients.Deficiency of complex I (NADH ubiquinone oxidoreductase, EC 1.6.5.3) of the respiratory chain is a major cause of inborn mitochondrial disease (1-6). Leigh syndrome (early onset fatal neurodegenerative disorder) and Leigh syndrome-like disease are the most common clinical phenotypes associated with complex I deficiency. Impairment of complex I has also been reported in Parkinson (7), Alzheimer (8, 9), and Huntington (10) diseases.Complex I is the largest of the respiratory chain enzymes, being composed of seven mitochondrial DNA and at least 39 nuclear DNA-encoded subunits (11). Mutations in structural subunits have been found in ϳ40% of the patients with inborn deficiency of complex I. Reported mutations include all of the mitochondrial DNA-encoded subunits (12) and twelve nuclear-encoded subunits (3, 6, 13-15).The nuclear NDUFS4 gene codes for an 18-kDa subunit of the complex (11), which in high eukaryotes contains potential phosphorylation sites for cAMP-dependent protein kinase in both the presequence and the carboxyl-terminal region (EMBL Data Bank). In mammalian (16 -18) and human (19) cell cultures cAMP promotes the phosphorylation of the NDUFS4 protein and enhances the functional capacity of complex I. Three recessive mutations in the nuclear NDUFS4 gene have been identified in three unrelated children affected by Leigh syndromelike syndrome with deficiency of complex I, including an AAGTC duplication at position 466 -470 in exon 5 (20), a single base deletion at position 289/290 in exon 3 (21), and a G44A nonsense mutation in the first exon of the gene, introducing a premature termination codon in the sequence coding for the mitochondrial leader peptide (13). All three mutations resulted in the disappearance of the 18-kDa subunit and defect in both the activity and assembly of the complex (22). In the 289/290 deletion in exon 3, whic...