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Biomedical subjects

C Rubino

Publications and source records attributed to C Rubino.

At least 19 recordsLinked to original sources
PubMed2001

Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect.

Multiple primary cancers are one of the hallmarks of inherited predisposition. Outside the familial context, multiple primary tumors could be related either to germline de novo mutations or to low-penetrance mutations, in predisposing genes. We selected 100 patients who displayed multiple primary melanoma (MPM) without any known melanoma cases recorded within their families and looked for germline mutations in the two melanoma-predisposing genes identified to date, CDKN2A and CDK4 exon 2. Nine patients (9%) had germline mutations in CDKN2A, whereas none carried germline mutations in exon 2 of CDK4. Seven cases displayed a recurrent missense mutation, G101W, already described in more than 20 melanoma-prone families; one case carried a missense mutation never reported to date (P114S), and the last case was a carrier of a 6 bp insertion at nucleotide 57 resulting in a duplication of codons 18 and 19. To ascertain whether the G101W was a mutational hot spot for de novo mutations or a common founder mutation, we genotyped eight microsatellite markers flanking the CDKN2A gene. After allowing for recombination over time, haplotype sharing provided evidence for an original G101W mutation common to 6 out of 7 sporadic MPM cases. Therefore, it can be concluded that de novo germline CDKN2A mutations associated with MPM are rare.

Adult↗
PubMed2001

Extracorporeal septoplasty with paramarginal incision.

To reconstruct the airways in the case of serious nasoseptal deviation it is preferable to remove the cartilaginous septum, reshape it, and put it back. This may be done through an open rhinoplasty approach with a transcolumellar scar resulting in wide visual access to the septal structures. As the transcolumellar scar may give problems in some cases, it might be helpful to use an extended paramarginal incision. A traditional open rhinoplasty approach was used in eight patients and the extended paramarginal incision technique in 19 patients. Two of the eight patients who had the open rhinoplasty technique developed unsatisfactory transcolumellar scars. Of the 19 patients who had paramarginal incisions no patient developed late problems. The paramarginal approach was superior to the traditional open rhinoplasty approach despite the slightly better visualisation with open rhinoplasty.

Adult↗
PubMed2001

Ultrastructural anatomy of contracted capsules around textured implants in augmented breasts.

The development of a capsule around an implant is part of the physiological response to a foreign body. Capsular contracture is the most specific and frustrating complication of augmentation mammaplasty, and a lot of studies have been devoted to it. The aim of the current study is to examine the fine architecture of the contracted capsule around textured implants in humans. Eight capsules from augmented and contracted breasts with gel-filled, textured-surface silicone implants were studied after standard preparation for light and scanning electron microscopy, and after partial digestion in sodium hydroxide. Two capsules from contracted breasts around smooth implants and two noncontracted capsules around textured implants were prepared and studied in the same fashion as controls. A multilayer structure of the contracted capsule was seen, and the architecture of the various layers is described. The inner surface presents irregular craterlike depressions. The arrangement of collagen fibers varies in capsule layers. The effect of a textured-surface implant on the mechanism of capsule contraction based on the observed capsular architecture is that only part of the capsule is effective mechanically in producing a contracting force. A thin vascular layer was identified near the inner surface in contracted capsules around textured implants, and the authors' think that this layer is probably the key structure in the histological development and growth of the capsule.

Adult↗
PubMed2001

[Antioxidant therapeutic efficiency after the use of carnitine in infertile patients with bacterial or non bacterial prostato-vesiculo-epididymitis].

OBJECTIVE: In the male genital tract, reactive oxygen species (ROS) overproduction generated by infiltrating WBC or spermatozoa is one of the major causes of defective sperm function. Recently, we demonstrated that prostato-vesiculo-epididymitis (PVE) is the male accessory gland infection more crucial for the establishment of this cellular (sperm and/or WBC oxidative) response. This biochemical stress is due to an imbalance of pro and antioxidants factors and persists even after treatment with antimicrobials. Thus, the antioxidative properties of Carnitines (in terms of combined "Carnitine-Acetil-Carnitine" system) have currently found more attention as part of antimicrobial therapies. In this study, we compared which antioxidative strategy was more beneficial for the treatment of PVE. MATERIALS AND METHODS: We selected two groups of infertile patients. One group consisted of 55 abacterial PVE patients (mean age 34 yrs, range 27-40) (group A); the other included other 35 bacterial PVE patients (mean age 35 yrs, range 28-38) (group B). Each group was randomly subdivided into the following treatment subsets: 1) A1 (n = 14) and B1 (n = 23) subsets received respectively a combined antibiotic and/or antiphlogistic regimen (x 14 days/ monthly x 3 months) (first step) followed by L-Carnitine 1 g x 2 day + acetyl-Carnitine 0.5 g x 2/day x other 3 months (second step) and finally no drug x other 3 months (third step). 2) A2 (n = 8) and B2 (n = 16) subsets received, for a 3 month period, in the meantime the combined antibiotic and/or antiphlogistic regimen (x 14 days/monthly) and L-Carnitine 1 g x 2/day + acetyl-Carnitine 0.5 g x 2/day (first step) and finally no drug x other 3 months (second step). 3) A3 (n = 8) and B3 (n = 12) subsets received for a 3-month period L-Carnitine 1 g x 2/day + acetyl-Carnitine 0.5 g x 2 day (first step) and finally no drug x other 3 months (second step). Before and after each step of the therapeutical design, all patients underwent semen and quantitative bacteriological analyses and 60/90 semen specimens were also investigated about ROS production analysis by chemiluminescence in their 45% and 90% Percoll-generated fractions. RESULTS: The antioxidative response either in terms of significant decrease in the ROS production and increase in some semen parameters (sperm motility and viability) were highest in the patients of A1/B1 subsets, followed by A2/B2 subsets and lowest in the A3/B3 subsets. CONCLUSION: These results indicate that in PVE patients antimicrobials and/or antiphlogistic drugs get a full positive antimicrobial response but a partial antioxidative response, which seems to be potentiated by the addition of antioxidative agents (Carnitines). Furthermore, it is important to underline that the antioxidative treatment with Carnitines administered in the meantime with antiinfectious agents is less effective, and finally this treatment is unsuccessful without the eradication of the pro-oxidant (germs and WBC) agents.

Adult↗
PubMed2000

Increased frequency of HCV and HBV infection in type 2 diabetic patients.

The aim of our study was to verify if the diabetic population can be considered at risk for HBV (B hepatitis virus) and/or HCV (C hepatitis virus) correlated viral hepatitis. We examined 1514 diabetic patients, 668 males and 846 females. In patients who had, on at least two occasions, pathological transaminase values (AST and/or ALT), the markers for HBV and HCV infection were determined. Of the 1514 patients studied, 295 (19.48%) had pathological values of ALT and /or AST. Among the hypertransaminase patients (295), 69 were not tested for the markers because they refused to give informed consent; of the remaining 226 patients, 54 were negative and 172 (76.6%) were positive for at least one of the hepatitis markers (HBV, HCV or both). Those who were anti-HCV positive were 115 (38.98%), of which 50 were also positive to hepatitis B (16.9%), while those positive only to the B markers were 57 (19.3%). If we compare the patients with positive markers (172) to the total number of diabetic patients studied (1514), we find that there is a hepatitis B and/or C prevalence of 11.36%, with no statistically significant difference between females (95/846, 11.23%) and males (77/668, 11.53%). The prevalence of only hepatitis C was 7.6%, while only hepatitis B was 7.1%. In conclusion, our study shows an increasing prevalence of hepatitis C and B, often associated, in type 2 diabetic patients that allows us to define them as a group at risk for viral hepatitis.

Alanine Transaminase↗
PubMed2000

Increased risk of second cancers following breast cancer: role of the initial treatment.

OBJECTIVES AND METHODS: The risk of second primary malignancies (SMN) was studied in a cohort of 4,416 one-year survivors of a breast cancer. The role of the menopausal status and of the initial treatment modalities (surgery, radiotherapy, and chemotherapy) was investigated. RESULTS: Excluding second primary breast cancer and non-melanoma skin cancer, a total of 193 (4.4%) patients developed a SMN between 1973 and 1992, compared with 136 expected (Standardised Incidence Ratio, SIR = 1.4, 95% CI (1.2-1.6)). No trend towards either an increase or a decrease was noted in the SIR with time after treatment (p = 0.2). The greatest increase in the relative risk concerned soft tissue cancers (SIR = 13.0, 95% CI: 6.8-22.3), followed by leukaemia (SIR = 3.1, 95% CI: 1.7-5.0), melanoma (SIR = 2.7, 95% CI: 1.4-4.8), kidney (SIR = 2.5, 95% CI: 1.2-4.5), ovary (SIR = 2.0, 95% CI: 1.2-3.1) and uterine tumours (SIR = 1.9, 95% CI: 1.4-2.5). The SIR was 3.0 (95% CI 1.8-4.7) in women under 40 at the time of the breast cancer, 1.9 (95% CI: 1.4-2.4) in those aged 40-49 and 1.2 (95% CI 1.0-1.4) in those aged 50 or more. In the 2,514 women who had received radiotherapy as initial treatment without chemotherapy, the SIR for all SMN was 1.6 (95% CI: 1.1-2.3) fold higher than in those who had not received radiotherapy as initial treatment. CONCLUSION: In conclusion, this study confirms the increased risk of second malignancies in women treated for a breast cancer, and particularly in those who were younger at the time of treatment for breast cancer. Our results also suggest that radiotherapy may play a role in the onset of these second lesions.

Adult↗
PubMed1999

Clinical use of a new axial chondro-mucosal flap in wide full-thickness eyelid reconstructions.

BACKGROUND AND OBJECTIVE: Full thickness reconstruction of more than half of an eyelid, mainly of the upper one, is a challenge for the surgeon. In 1992, for the first time, the authors reported the use of an axial chondro-mucosal flap from the nose for reconstruction of the tarsoconjunctival plane of a full thickness defect of an eyelid. This article reports and discusses the results of the follow-up of 18 patients operated on using the above technique during the period June 1991-March 1997. PATIENTS AND METHODS: Apart from the oncological evaluation, the following parameters were assessed: position, closure, the presence of epiphora, length of the palpebral rim, rim opening, levator function, an aesthetic balance of the eyelids, and donor site morbidity. The follow-up ranged from 6 to 40 months. RESULTS: The axial chondro-mucosal flap was clinically viable in all patients. One patient showed a 2 mm lagophthalmos. Static parameters were within normal ranges. In upper eyelid reconstruction, an 8 to 18 mm. levator function (mean 13 mm) was shown. CONCLUSION: The authors discuss their complications and results and feel that this flap, associated with full thickness skin grafts, may be considered a first choice technique, in expert hands, in complex full thickness upper eyelid reconstruction, and a possible alternative in lower eyelid reconstruction, for wide defects when the use of other flaps is compromised.

Adult↗
PubMed1998

Cost-minimization analysis of prophylactic granulocyte colony-stimulating factor after induction chemotherapy in children with non-Hodgkin's lymphoma.

BACKGROUND: Colony-stimulating factors promote the proliferation of certain bone marrow cell populations. The primary objective of treating patients with these factors prophylactically following chemotherapy is to reduce the risk of infection, thereby minimizing the need for hospitalization and parenteral antibiotics. The use of colony-stimulating factors in children is widespread, despite the absence of conclusive supportive data and the high cost of these drugs. Consequently, the cost-benefit ratio of using prophylactic colony-stimulating factors is an important issue in cancer therapy. METHODS: During the period from January 1994 through June 1996, 149 afebrile children with newly diagnosed non-Hodgkin's lymphoma were randomly assigned either to receive granulocyte colony-stimulating factor (G-CSF) (lenograstim; 5 microg/kg body weight per day subcutaneously) or not to receive it (the control) at the end of the first two courses of induction chemotherapy with cyclophosphamide, vincristine, prednisone, doxorubicin, and methotrexate. A cost-minimization analysis was performed to assess the cost of chemotherapy in each group and to quantify how much could be economized by prescribing G-CSF. RESULTS: The total cost for induction chemotherapy was $29,765 in the G-CSF-treated group and $30,774 in the control group, indicating that the treatment strategy with G-CSF was slightly less expensive than the strategy without G-CSF (mean difference = $1009; 95% confidence interval = -$1474 to $3492). CONCLUSION: Treatment with G-CSF following chemotherapy in children with non-Hodgkin's lymphoma--previously shown to be of limited clinical benefit--also does not appear to reduce the costs of chemotherapy.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1997

Island chondromucosal flap from the nose in reconstruction of the eyelid. A light and scanning electron microscopic study.

Specimens from the reconstructed eyelids of two out of 15 patients operated on using an island chondromucosal flap from the nose were observed under light and scanning electron microscopy (EM) to study the histological and ultrastructural features of nasal epithelium transferred as a flap to the lids, the microscopic appearance of the other tissues of the flap, and its vascularisation. Both light and scanning EM images showed that nasal epithelium, when transferred as part of a flap for reconstruction of the eyelid, maintains its differentiation for many months. The lumen of arteries and veins can be observed in sagittal sections within the flap, suggesting that their course is parallel to its long axis. The absence of fibrosis or muscle fibre degeneration together with a highly cellular cartilage are indirect indications of good vascularity. These data support the reliability of the island chondromucosal flap from the nose in reconstruction of the eyelid.

Aged↗
PubMed1996

Venous flaps and perivenous areolar tissue: an experimental study in rats.

Since plastic surgeons are continually looking for new possibilities for the clinical transfer of tissue, they are very interested in investigating capillary blood flow. Recently, several authors have investigated the role of veins in experimental island venous flaps. In the present study, the authors attempt to clarify the importance of plasmatic imbibition and perivenous tissue as single nourishment sources in experimental island skin flaps deprived of arteries, and consisting of both axial and random zones. This study demonstrates the importance of perivenous areolar tissue in flap survival; the "initial plasmatic imbibition" was not able to keep the flaps viable. Due to the previously demonstrated presence of small arteries in the pedicle of "venous flaps," these flaps should no longer be considered as purely venous. In the reported rat model, it was not possible to harvest a flap without arterial inflow.

Animals↗
PubMed1995

Accessory slip of the palmaris longus muscle.

We discuss the case of a patient presenting an accessory slip of the palmaris longus (PL) muscle, which caused symptoms of median nerve compression on his left forearm. An asymptomatically anomalous distal PL belly contralaterally is also reported, and the clinical relevance and diagnosis of PL anomalies are discussed.

Adult↗
PubMed1994

Island chondro-mucosal flap and skin graft: a new technique in eyelid reconstruction.

We report a new technique of large full thickness eyelid defect reconstruction using an axial island chondro-mucosal flap from the lateral aspect of the nose and a full-thickness skin graft. The flap is harvested undermining the skin and the subperiosteal plane and taking a strip of upper lateral cartilage and nasal mucosa. It is transposed to reconstruct the tarso-conjunctival plane of the missing eyelid and the skin defect repaired with a skin graft. The donor defect is repaired by direct closure. Satisfactory results were obtained in 3 patients. In our opinion, the technique is a reliable choice when dealing with large full thickness defects of the upper eyelid, and, in selected cases, of the lower eyelid.

Adenocarcinoma, Sebaceous↗
PubMed1994

Free flap failure in a patient with a long standing, infected, squamous cell carcinoma.

A 40-year-old patient presented with a long history of a pilonidal sinus, which had been operated on several times during the last 20 years. On clinical examination the patient had a large tumour in the sacral and perineal region, with involvement of the rectal wall. General surgeons first attempted to excise the tumour with wide healthy margins, and close the wound by local flaps. After partial flap necrosis and wound dehiscence, the patient underwent a reconstruction with a free latissimus dorsi myocutaneous flap. During the anastomosis it was noted that the recipient vessel walls were brittle, mainly at the arterial site, so the arterial anastomosis had to be done three times. Despite this the artery thrombosed again 12 hours later. Biopsy specimens were taken from the anastomotic sites and studied under light microscopy. There were signs of acute intramural inflammation, with many polymorphonuclear leukocytes present in microabscesses, and spots of necrosis in the elastic layer at the site of the recipient artery. In conclusion, the long lasting infection was considered to be the main factor that caused the anastomosis to fail, leading to thrombosis, through alteration of the vessel walls. The anomalies in the vessel walls were found at some distance from the clinically diseased area, further than is usually found in acute infection. The use of primary arteriovenous vein graft anastomosis can be made on undamaged vessels, and possibly a less traumatic anastomosis such as the "sleeve" type, should be considered for similar cases.

Abscess↗