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Biomedical subjects

P De Martino

Publications and source records attributed to P De Martino.

9 recordsLinked to original sources

Haemochromatosis gene (HFE) polymorphisms and migraine: an association study.

Several studies have suggested that iron metabolism may be involved in the pathogenesis of migraine. Using a case-control design, we performed an association study in a cohort of Italian migraine patients to evaluate whether a particular allele or genotype of the haemochromatosis gene (HFE) would modify the occurrence and clinical features of the disease. We genotyped 256 migraine patients and 237 healthy age-, sex- and ethnicity-matched controls for the C282Y and H63D polymorphisms of the HFE gene. Phenotype and allele frequencies of both polymorphisms were similarly distributed in migraine patients and controls. The patients carrying the DD genotype of the H63D polymorphism showed a later age at onset of the disease and an increased number of migraine attacks. Our data suggest that the HFE gene is not a major disease gene for migraine. However, the H63D polymorphism of the HFE gene may be considered a modifying genetic factor in migraine.

Adult↗

Lack of association between the 3092 T-->C Clock gene polymorphism and cluster headache.

Recent studies suggested that genetic factors play a role in cluster headache (CH). However, the type and the number of genes involved in the disease are still unclear. We performed an association study in a cohort of Italian CH patients to evaluate whether a particular allele or genotype of the Clock gene would modify the occurrence and the clinical features of the disease. One hundred and seven CH patients, diagnosed according to the International Classification of Headache Disorders, 2nd Edition, (ICHD-II) criteria, and 210 healthy age, sex and ethnicity-matched controls were genotyped for the 3092 T-->C Clock gene polymorphism (also known as 3111 T-->C). Phenotype and allele frequencies were similarly distributed in CH patients and controls. The clinical features of the disease were not significantly influenced by different genotypes. In conclusion, our study suggests that the 3092 T-->C polymorphism of the Clock gene is unlikely to play an important role in cluster headache.

Adult↗

A polymorphism of the hypocretin receptor 2 gene is associated with cluster headache.

Several polymorphisms of the hypocretin/orexin system genes were evaluated in 109 cluster headache patients and 211 controls. The 1246 G>A polymorphism of the gene was significantly different between cases and controls. Homozygosity for the G allele was associated with an increased disease risk (OR: 6.79, 95% CI, 2.25 to 22.99). The data suggest that the HCRTR2 gene or a linked locus significantly modulates the risk for cluster headache.

Adult↗

Headache attributed to spontaneous low CSF pressure: report of three cases responsive to corticosteroids.

The therapy of headache attributed to spontaneous low CSF pressure (previously defined as spontaneous intracranial hypotension) is still a matter of debate. Epidural blood patch is considered the most effective treatment. However, pharmacological strategies may be considered before blood patch. We report three patients with headache attributed to spontaneous low CSF pressure that were successfully treated with oral prednisone. Additional studies may be useful to prove the effectiveness of corticosteroids in this syndrome.

Adrenal Cortex Hormones↗

[Stenosis of the new bladder neck, a complication of radical prostatectomy: personal experience].

BACKGROUND: To describe personal experience on stenosis of the new bladder neck, a complication of radical prostatectomy. After a review of the literature, guidelines are proposed to avoid this complication, both from a prophylactic and treatment point of view. METHODS: Between 1992 and 2000, 54 patients were submitted to radical prostatectomy, 18 of whom later presented stenosis in the new bladder neck. Mean age of patients was 65.6 years (range 55-76). According to TNM classification, 46 patients (85%) were stage pT2N0M0 and eight patients (15%) stage pT3N0M0, no significant correlation being found with PSA values. All patients were submitted to pre- and postmicturition retrograde cystourethrography, four weeks after surgery; patients presenting dysuric symptoms also underwent further retrograde cystourethrography and flowmeter examinations. RESULTS: Of the 54 patients, 18 (33%) presented stenosis of the new bladder neck as a complication of radical prostatectomy. Of these 18 patients, 12 (22%) presented acute dysuria symptoms. In 14 cases, one-two cycles of urethral dilation were sufficient to improve flowmeter values. In the four remaining cases showing no improvement following urethral dilations, endoscopic resection was necessary in two and urethrotomy according to Sachse in the other two. CONCLUSIONS: Stenosis of the anastomosis of the new bladder neck is a complication of radical prostatectomy occurring within six months of surgery, no correlation being found with tumour stage, recurrence, or duration of catheter in situ. Of the 18 patients presenting stenosis in the series described, in 78%, cycles of urethral dilation were sufficient to successfully resolve the complication thus avoiding further surgery, which, on the other hand, was necessary in four patients, two submitted to endoscopic resection of the stenosis and the other two to incision according to Sachse.

Aged↗

[Immunotherapy in the management of metastatic renal carcinoma].

BACKGROUND: Renal cell carcinoma (RCC) is a relatively rare tumor representing 2-3% of all neoplasias. Approximately 30% of patients diagnosed as having RCC present metastases: mean survival ranges between 6 and 10 months, whilst 10-20% present a 2-year survival rate. Treatment of patients with metastatic RCC is a difficult challenge. Hormones and chemotherapy, either alone or associated with surgical resection of the primary lesion have been used. In our experience, IL-2 + IFN-a has been shown to be an encouraging form of treatment. METHODS: During the period between October 1997 and December 1999, 5 patients (3 males, 2 females), mean age 52.5 years, with metastatic RCC, came to our attention. TC revealed a circumscribed area the margins of which were not well defined, in a mid-renal localization, positive inter aorta caval and obturator lymph nodes, but no lung, brain or hepatic involvement. Patients were submitted to nephrectomy and lymphadenectomy followed later by immunotherapy with IFN-alpha (3 Mil twice a week) + low dose IL-2 (1 Mil/m2/12 h): treatment was given for 4 consecutive weeks and then repeated every 3 weeks for 1 year. RESULTS: At 30 months' follow-up all patients showed regression of the disease (100% of cases) and in none of the cases there was evidence of metastases. Only one patient (20%) presented side-effects (nausea, vomiting, slight rise in temperature) all of which disappeared at the end of the first week of treatment. CONCLUSIONS: These results, even if on a limited number of patients and for a limited follow-up period, show that in some patients with metastatic renal cell carcinoma, treatment with IL-2 and IFN-a following nephrectomy and lymphadenectomy should be considered the therapy of choice.

Carcinoma, Renal Cell↗

[Incidence and treatment of postprostatectomy urinary incontinence. Personal experience].

BACKGROUND: To evaluate frequency of postprostatectomy urinary incontinence in order to establish the last invasive and most efficacious treatment to completely restore urinary incontinence. METHODS: Between 1992 and 2000, twenty-four patients with retropubic postprostatectomy urinary incontinence were studied. The symptoms reported by all patients referred to lack of control of urine with consequent leakage upon activities exerting increased abdominal pressure (sneezing, lifting of heavy weights). These patients were submitted to urodynamic examinations and the degree of incontinence was further evaluated from the number of pads used daily (slight, 0-1; medium 2-3; severe, >3). Mean follow-up was three years, eight months. RESULTS: Of the twenty-four patients, twenty (83%) presented stress incontinence, two (8.5%) urge incontinence, and two (8.5%) a mixed type incontinence. Eighteen patients (36%) reported slight precocious incontinence which disappeared spontaneously within three-six months. Six patients (12%) reported total incontinence which had not improved within twelve months, in four of these patients, continence was achieved by means of perineal rehabilitation whilst in the remaining patients, use of pads (up to three pads/day) was necessary, due to failure of rehabilitation. CONCLUSIONS: Once the need has been established for radical anatomic prostatectomy which offers the possibility of postoperative continence, perineal rehabilitation represents the first choice treatment on account not only of the high percentage of successful results but also due to low invasiveness, whilst the use of the AMS 800 sphincter offers the only solution in those forms of severe incontinence refractory to less invasive forms of treatment.

Aged↗

[Postprostatectomy erectile dysfunction].

BACKGROUND: To evaluate the frequency of erectile dysfunction in patients submitted to radical prostatectomy due to prostate carcinoma and to the possibility, with appropriate treatment, of restoring adequate erections for a satisfactory sexual activity. METHODS: Between 1996 and 2000, thirty-eight patients with prostate carcinoma have been submitted to radical prostatectomy. According to TNM classification upon diagnosis, thirty-three patients (87%) were stage pT2N0M0 and five patients (13%) stage pT3N0M0. Mean age of patients was 62.4 years (range 55-76). Mean follow-up was two years and seven months. Diagnosis of erectile dysfunction was made from personal history as well as that of the patient plus partner, and from nocturnal penile tumescence evaluation with Rigiscan. RESULTS: Eighteen patients (47%) presented erectile dysfunction as a complication 16 (89%) of whom showed no nocturnal reaction at the Rigiscan test, while in the remaining two (1%), one-two nocturnal erections of less than five minutes were obtained. Of the eighteen patients, 14 (78%) showed a positive response to treatment with intracavernous drug infusion (papaverine+Phentolamine+Alprostadil), whilst only one patient benefited from treatment with oral Sildenafil. CONCLUSIONS: This study showed the high frequency (47%) of erectile dysfunction in patients submitted to radical prostatectomy as well as the need to perform radical nerve-sparing surgery (particularly in the neoplastic forms not involving the prostate capsule) which is useful not only for preserving erectile function but also on account of better response to oral Sildenafil treatment following the use of this technique.

Aged↗