Brown's syndrome associated with Smith-Magenis syndrome: Case report

Brown's syndrome is generally an isolated clinical condition. The authors observed a girl with a right Brown's syndrome and a rare condition due to an interstitial deletion of chromosome 17, known as Smith-Magenis syndrome. A wide spectrum of congenital disorders have been reported in Smith-Magenis syndrome, but never Brown's syndrome.     

Paradoxical stimulation of prolactin secretion by L-dopa in metastatic prostate cancer and its possible role in prostate-cancer-related hyperprolactinemia

OBJECTIVE: In addition to sex steroids, prolactin (PRL) may also stimulate prostate cancer growth. Abnormally high blood levels of PRL have been noted in metastatic prostate cancer patients. However, most studies have been limited to the evaluation of basal levels of PRL rather than to investigate its secretion in response to classical endocrine dynamic tests. This study was carried out to analyze PRL secretion in metastatic prostate cancer patients both at basal conditions and in response to L-Dopa and metoclopramide, which represents the most classical inhibitory and stimulatory tests for PRL secretion, respectively. METHODS: The study included 12 patients with metastatic prostate cancer. On separate occasions, PRL secretion was evaluated in response to L-Dopa (500 mg orally) and to metoclopramide (10 mg i.v. as a bolus). Serum levels of PRL were measured by RIA. RESULTS: Mean PRL concentrations significantly increased after metoclopramide administration, even though no PRL response occurred in 6 of 12 patients. L-Dopa was unable to reduce PRL levels, which, in contrast, paradoxically significantly increased in response to L-Dopa, with mean values comparable to those achieved after metoclopramide injection. CONCLUSION: By showing a paradoxical stimulatory effect of L-Dopa on PRL secretion and a lack of response to metoclopramide in some patients, this study would suggest the existence of evident alterations in the neuroendocrine regulation of PRL release in advanced prostate cancer.     

Changes in conjugated linoleic acid and its metabolites in patients with chronic renal failure

BACKGROUND: Conjugated linoleic acid (CLA) is a mixture of isomers of linoleic acid with conjugated double bonds that constitutes the most abundant fatty acid with conjugated dienes (CDs) in humans. CLA, erroneously considered in the past as a product of lipoperoxidation, has a dietary origin and has shown to possess anticarcinogenic and anti-atherogenic activity, mainly in animal studies. CLA can be metabolized to conjugated linolenic acid (CD18:3) and to conjugated eicosatrienoic acid (CD20:3) and these metabolites may be implicated in CLA activity. Because of the presence of dyslipidemia and the high incidence of cardiovascular and neoplastic diseases in uremic patients, we evaluated CLA and its metabolites in these patients in order to evaluate their metabolism and site distribution. METHODS: We measured CLA, CD18:3, CD20:3, CD fatty acid hydroperoxides (lipoperoxidation products), and linoleic acid in the plasma, adipose tissue, and red blood cell (RBC) membranes by using high-pressure liquid chromatography in the following groups: (1) 23 chronic renal failure (CRF) patients with creatine clearance (CCr)> 10 mL/min (26.2 +/- 16.7); (2) 21 end-stage CRF patients in conservative treatment with CCr <10 mL/min (6.8 +/- 1.8); (3) 30 hemodialysis (HD) patients; and (4) 30 healthy controls. RESULTS: The incorporation of CLA, CD18:3, and CD20:3 in RBC membranes was significantly reduced in group 1 and was even more reduced in groups 2 and 3. CLA significantly increased both in the plasma and adipose tissue of end-stage CRF patients only. CD18:3 and CD20:3 did not change in the plasma and adipose tissue of any group. No significant changes in linoleic acid and CD fatty acid hydroperoxides were found. CONCLUSIONS: The alterations of CD in CRF patients are not due to lipoperoxidation. The increased levels of CLA in plasma and adipose tissue of end-stage CRF patients may be due either to a reduced metabolization of CLA to CD18:3 and CD20:3, or to an altered site distribution with reduced incorporation in cellular membranes and accumulation in the plasma and adipose tissue. The clinical significance of these changes remains to be investigated.     

Thoracoscopic truncal vagotomy

BACKGROUND: Nowadays the only indications to truncal vagotomy is recurrent ulceration after previous gastric surgery. Truncal vagotomy allows us to obtain a reduction in acid production and to promote ulcer healing, but this technique causes pylorospasm in about 20% of cases and this requires further synchronous or metachronous pyloric drainage procedure. For this reason, videothoracoscopic truncal vagotomy is reserved to patients with gastroresection. METHODS: The authors describe 15 patients treated with videothoracoscopic truncal vagotomy. In 12 patients, a gastrojejunostomy was done according to Roux technique in 2 patients, a reconstruction according Billroth II technique and in 1 patient, a gastroduodenostomy according to Billroth I technique. RESULTS: Videothoracoscopic bilateral truncal vagotomy was done in all patients; operation time was 45 minutes. During the postoperative period there were no complications. No patients underwent medical therapy for peptic ulcer. Only in 12 patients was it possible to execute an endoscopic follow-up in a period of 3 to 4 years. In all patients the ulcer was completely healed. CONCLUSIONS: Complete vagotomy in patients who present with recurrent gastrointestinal bleeding after previous gastroresection, is associated with significant risks. Videothoracoscopic bilateral truncal vagotomy as a simple and efficient procedure seems to be an alternative treatment for the management of recurrent ulceration after previous gastric surgery for peptic disease.     

Thoracoscopic splanchnicectomy for pain relief in unresectable pancreatic cancer

HYPOTHESIS: Unilateral truncal thoracoscopic splanchnicectomy (TS) provides safe and effective treatment for pain relief in patients with unresectable pancreatic cancer. DESIGN: Before-and-after trial of 24 patients undergoing 25 TS procedures. SETTING: Surgical unit at a university teaching hospital. PATIENTS: A consecutive sample of 24 patients with severe pain due to unresectable (primary or recurrent) pancreatic cancer refractory to drug therapy and with a life expectancy of less than 6 months. INTERVENTION: The key point of the reported operation is intrathoracic carbon dioxide insufflation, which allows a more distal division of the greater splanchnic nerve and a 2-port technique. MAIN OUTCOME MEASURES: Pain and the effect of this symptom on quality of life were assessed before and after TS using a 10-point visual analog pain scale (VAS) and the Nottingham Health Profile questionnaire, respectively. RESULTS: Four TS procedures were technical failures because of pleural adhesions. One patient required a contralateral procedure 12 weeks after TS. Mean (+/- SD) preoperative VAS basal score was 7.4 +/- 1.7. Twenty-four hours after TS, it was reduced to 0.6 +/- 1.0. Significant reduction of VAS scores persisted over the first 3 months after TS (P<.001). Recurrence of pain of low intensity (mean VAS basal score, 4.2) was observed in 8 patients. Significant improvement (P<.001) in each area covered by the Nottingham Health Profile questionnaire was reported at 1 month after TS. CONCLUSION: Thoracoscopic splanchnicectomy offered substantial short-term relief of pain in patients with unresectable pancreatic cancer, and significantly ameliorated the quality of their residual life.     

Surgical treatment of thyroid microcarcinoma

Thyroid microcarcinoma is nowaday defined as a tumor of one centimeter or less in the maximum diameter. It occurs in less than five per cent of all thyroid carcinomas. In personal experience four thyroid microcarcinomas have been found in specimens from 121 thyroidectomies and have been retrospectively reviewed clinical data and the long term follow-up of the patients. Total thyroidectomies nor prophylactic lymphadenectomies were never performed. All patients at present are well. Our purpose was to focus on the current surgical treatment of microcarcinoma. Many hypotheses are done to explain pathogenesis and fairly good prognosis of thyroid microcarcinomas, without univocal conclusions. Almost all authors agree that microcarcinoma of the thyroid gland is a low-aggressive tumor, with good biological behaviour, but the therapeutic strategies are not codified yet. Particularly, doubt still exists about the choice between total thyroidectomy and more conservative procedure, and lymphadenectomy, especially when tumor is found in specimens after surgery for benign disease. In conclusion, in our opinion conservative management is the best choice, provided that the patient is included in a correct long-term follow-up.     

Maternal heterodisomy/isodisomy and paternal supernumerary ring of chromosome 7 in a child with Silver-Russell syndrome

Silver-Russell syndrome (SRS) is clinically variable although most cases have several common signs. Different chromosomes and chromosomal regions have been associated with SRS. Maternal uniparental disomy (UPD) of chromosome 7 is responsible for 5-10% of cases, probably because of an imbalance between maternal and paternal imprinted genes and more recently maternal duplication or epimutations in the 11p15 imprinted region have been described. To date, only two patients with maternal UPD7 and a mosaic condition for a supernumerary ring 7 marker have been reported, and we here report a further case. Standard QFQ banding of lymphocytes as well as fluorescence in-situ hybridization analyses were performed to identify and characterize the supernumerary marker. UPD testing was performed on both the patient's and parents' DNA using chromosome 7 microsatellite markers. The patient demonstrated a ring in about 4% of the analysed cells. On the basis of cytogenetic and molecular results, break points were tentatively identified as 7p11.2 and 7q21. Maternal hetero-/iso-UPD and a paternal origin for the supernumerary ring were demonstrated. Clinical data comparison between our patient who has a SRS phenotype and cases with hetero-/iso-UPD7 mat and mosaicism for a paternally derived chromosome 7 ring and previously reported ring 7 cases suggest that the SRS phenotype is probably because of the UPD rather than to the partial trisomy.