Aberrant congenital macular vessel crossing the fovea: evaluation with optical coherence tomography.
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Biomedical subjects
Publications and source records attributed to G Pappalardo.
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Sequencing of the homopolymeric tract of cytosines (C-stretch) in human mitochondrial HVI region usually results in a blurred pattern beyond it when a T/C transition at nt 16189 occurs: it depends on a length heteroplasmy probably arising through a replication slippage. This study aims to investigate the distribution of heteroplasmic length variants within three related individuals along maternal lineage by cloning approach. Sequencing of multiple independent clones (12--14) is sufficient to yield heteroplasmic profiles. In addition, we illustrate a direct correlation between expansion of heteroplasmy modal length and reduction of the number of adenines preceding the homopolymeric tract; this association may be useful in pedigree analysis and in forensic field for tissues comparison, single hair sample included.
Intra- and early (first week) post-operative haemorrhages are the most common complications in stapled hemorrhoidectomy PPH (Procedure for Prolapse and Hemorrhoids) and in circumferential resection of the rectal prolapse STARR (Stapled Trans Anal Rectal Resection). Performing PPH and STARR we employed a gelatin based haemostatic sealant with thrombin component (FloSeal) to control intra-operative bleeding and to reduce post-operative bleeding avoiding haemostatic stitches on suture line. We report the preliminary results on 197 PPH and 64 STARR; 44 PPH (22.4%) and 27 STARR (42.2%) were treated by FloSeal. No major post-operative bleeding was observed in all patients treated by FloSeal, compared to 1.3% and 2.7% of hemorrhage respectively in PPH and STARR patients treated without sealant. Post-operative pain was less severe in patients treated by FloSeal, without a difference statistically significant. The data are preliminary and must be confirmed in prospective randomized trials in larger series.
A case of a 64-year-old man with abdominal pain since three days, with vomiting and ileus and without previous surgery is reported. Faecal material was aspirated by a nasogastric tube; TC showed dilatation of the small bowel with the walls of the loops thickened. The patient was submitted to emergency surgery with diagnosis of intestinal infarction. At laparotomy an extensive necrosis (two meters) of small bowel was present, caused by visceral herniation by a Ladd's band. Intestinal resection was performed with latero-lateral stapled anastomosis. The postoperative course was uneventful and the patient was transferred in VII p.o. day to an hospital of his Country.
We report a case of a 57-year-old woman admitted for abdominal pain and a not reducible mass in left inguino-abdominal region. With a diagnosis of strangulated inguinal hernia, the patient underwent urgent surgery. The surgical exploration showed a gangrenous intestinal loop with a Meckel's necrotic diverticulum. A small bowel resection (20 cm) was performed. The post-operative course was uneventful. This seems the first case reported in the literature of woman with a Meckel's diverticulum involved in a strangulated left inguinal hernia.
Mitochondrial DNA (mtDNA) sequence variations at hypervariable regions HVI, HVII and HVIII were analysed in 100 unrelated Italians from Bologna. The values of the statistical parameters are in agreement with the range of European populations. We suggest that the less informative HVIII region may be useful to distinguish HVI-HVII identical sequences in forensic analysis especially when nuclear DNA cannot be investigated.
Stapled hemorrhoidectomy (PPH) is a modern approach to the treatment of hemorrhoids removing a circumferential strip of mucosa. In the same way the circumferential resection of the rectal prolapse (STARR) is successfully used for effective treatment of colporectocele and obstructed defecation syndrome. These surgical procedures offer several advantages over conventional techniques including reduced postoperative pain, stenosis and recurrences, an earlier recovery time and return to work. Furthermore, bleeding is one of the most common immediate complication (first week) and one of the possible late complication in these procedures. Our results with this surgery (153 PPH and 37 STARR) confirmed the data of many other Authors regarding the incidence of intra and early post-operative haemorrhages (1.3% in PPH and 2.7% in STARR). With the aim to reduce this complications, which represents the only negative side-effect of these procedures, we employed the FloSeal, a gelatine based haemostatic sealant with thrombin component, to control intraoperative bleeding. The preliminary results obtained in 10 PPH and in 7 STARR confirmed the theoretical usefulness of FloSeal in reducing this hemorrhagic complications.
OBJECTIVE: The aims of the present study were: (1) to determine whether short-term supplementation of beta-carotene (BC) or vitamin E (VE; alpha-tocopherol) would result in their respective accumulation in normal colonic mucosa and in adenomatous polyps; (2) to determine whether the intake of BC would interfere with the concentration of VE in these target tissues. DESIGN: Blood and colonic biopsy samples were taken before and after supplementation. SUBJECTS: Eighteen volunteers with colonic adenomatous polyps were enrolled into this study. INTERVENTIONS: The supplementation lasted for 43 days and patients were examined over the whole period. Subjects were randomised into four groups according to the four different supplementations: placebo, natural BC (25 000 IU/day), natural VE (400 IU/day), combination BC/VE. RESULTS: Initially we were aiming for recruitment of 20 patients in each group, however after 2 y of study (1997-1999), we terminated the study because of slow recruitment and analysed the data. In placebo subjects after supplementation, the plasma concentrations of BC and VE remained unchanged, however only two patients were recruited in this group and therefore we did not include this group in our final analysis. In BC group, the plasma BC concentrations increased significantly (P<0.001), while VE concentrations were unchanged. In VE group, VE concentrations increased (P<0.01) and BC did not change, and in BC/VE group both BC (P<0.001) and VE levels (P<0.01) increased significantly. After supplementation, the tissue concentration of BC in normal colonic mucosa in BC group increased significantly (P<0.01) while the VE concentration did not change. In VE group, the concentration of VE in normal colonic mucosa increased slightly but did not reach statistical significance. However, VE concentration increased significantly (P<0.05) in the polyps of this group. In BC/VE group, in which patients received the combination treatment, the BC concentration of normal colonic mucosa increased (P<0.05) but, surprisingly, the VE concentration decreased significantly (P<0.01). Interestingly in the polyps, although the BC concentration increased (P<0.01), the concentration of VE was reduced moderately but did not reach statistical significance. CONCLUSIONS: Supplementation of BC in doses used in this study may have significantly interfered with the VE concentration in the examined tissue and probably with its metabolic pathway.
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A method for male sex assignment in mixed samples by amplifying a specific amelogenin Y sequence is described. The specificity and the high sensitivity make it suitable for basic research, forensic evaluations and clinical applications.
The HUMARA CAG repeats polymorphism was studied in an Italian population sample. Polymerase chain reaction amplification and automated fluorescent analysis were used. A total of 19 and 15 repeats was observed in female and male subjects, respectively, and one new allele was found. The authors conclude that this X-linked short tandem repeat, typed without ambiguity and with a heterozygosity of 0.902, is useful in parentage testing of female subjects.
The diagnostic ability of Magnetic Resonance Colonography (MRC) in detecting colonic endoluminal masses was compared with that of conventional colonoscopy (CC) and related to the findings from histologic examination. In seventy consecutive patients MRC achieved a diagnostic accuracy similar to CC. Therefore MRC could be useful in screening patients at high risk for colonic cancer. However every patient with MRC-detected endoluminal lesion must undergo CC for histologic diagnosis.
The N-terminal octapeptide repeat region of human prion protein (PrPc) is known to bind Cu(II). To investigate the binding modes of copper in PrPc, an octapeptide Ac-PHGGGWGQ-NH2 (1), which corresponds to an octa-repeat sequence, and a tetrapeptide Ac-HGGG-NH2 (2) have been synthesised. The copper(II) complexes formed with 1 and 2 have been studied by circular dichroism (CD) and electron spin resonance (ESR) spectroscopy. Both peptides form 1:1 complexes with Cu(II) at neutral and basic pH. CD, ESR and visible absorption spectra suggest a similar co-ordination sphere of the metal ion in both peptides, which at neutral pH consists of a square pyramidal geometry with three peptidic nitrogens and the imidazole nitrogen as donor atoms. Cyclic voltammetric measurements were used to confirm the geometrical features of these copper(II) complexes: the observation of negative redox potentials are in good agreement with the inferred geometry. All these results taken together suggest that peptide 1 provides a single metal binding site to which copper(II) binds strongly at neutral and basic pH and that the binding of the metal induces the formation of a stiffened structure in the HGGG peptide fragment.
PURPOSE: The aim of the present study was to compare the accuracy of endorectal coil magnetic resonance imaging with transrectal ultrasound in staging rectal carcinoma. METHODS: Twenty-six consecutive patients with rectal carcinoma, histologically proven by endoscopic biopsy, were staged with both endorectal coil magnetic resonance imaging and transrectal ultrasound and then underwent radical surgery. The preoperative staging was compared with histologic findings of the operative specimen according to TNM classification. RESULTS: Endorectal coil magnetic resonance imaging showed better results but was not statistically significantly different from transrectal ultrasound in evaluating T (accuracy, 84.6 vs. 76.9 percent): four overstaged and no understaged cases for the former and five overstaged cases and one understaged case for the latter. Both procedures showed similar results in evaluating N: 81 percent sensitivity and 66 percent specificity for endorectal coil magnetic resonance imaging and 72 percent sensitivity and 80 percent specificity for transrectal ultrasound. CONCLUSIONS: An accurate locoregional staging of rectal cancer is essential for the planning of optimal therapy for rectal cancer. Endorectal coil magnetic resonance imaging and transrectal ultrasound showed similar results; the former is more expensive, whereas the latter is operator dependent. At present the use of endorectal coil magnetic resonance imaging seems to be justified only in selected low rectal cancers where transrectal ultrasound yielded doubtful results. However, a more extensive study is necessary to compare the advantages of these diagnostic techniques.
BACKGROUND & AIMS: The most effective prophylaxis for colorectal cancer is endoscopic polypectomy. Prompted by the disadvantages of conventional colonoscopy (CC), we assessed the diagnostic ability of a promising alternative technique for detecting endoluminal masses: magnetic resonance colonography (MRC). METHODS: Seventy consecutive patients referred for CC underwent preliminary MRC. The diagnostic ability of this technique in detecting colonic endoluminal lesions was determined, compared with that of CC, and related to the findings from histologic examination. RESULTS: In detecting endoluminal lesions, MRC achieved a diagnostic accuracy similar to CC (sensitivity, 96%; specificity, 93%; positive predictive value, 98%; and negative predictive value, 87.5%). CONCLUSIONS: MRC could be useful in screening programs of patients at high risk for colon cancer. Patients with MRC-detected endoluminal lesions must undergo CC for histologic diagnosis.
The myotonic dystrophy (DM) CTG repeat polymorphism has been studied in an Italian population sample. Polymerase chain reaction (PCR) amplification, manual polyacrylamide gel electrophoresis (PAGE), and silver staining were employed. Alleles were typed by comparison with a sequenced allelic ladder. A total of 25 different alleles, spanning the range from 5 to 31 CTG triplets, was observed. The heterozygosity was 79%, and no significant deviation from Hardy-Weinberg equilibrium was found. Eighty-one meioses from parentage testing were also analyzed, and a Mendelian pattern of inheritance was observed in all cases. In addition, we could successfully type the DM locus in 20 laboratory-prepared bloodstains, with 1 ng of DNA allowing clear definition of alleles. We conclude that the CTG repeats at the DM locus may be useful for forensic applications.
OBJECTIVE: To evaluate the outcome after total and subtotal thyroidectomy for the treatment of single and multinodular goitres in two comparable groups of patients. DESIGN: Prospective randomised study. SETTING: University hospital, Italy. SUBJECTS: 141 Patients operated on for benign goitre from 1975-85. INTERVENTIONS: 69 Patients were randomised to have total thyroidectomy and 72 subtotal thyroidectomy by standard techniques. MAIN OUTCOME MEASURES: Temporary or permanent palsy of the recurrent laryngeal nerve, temporary or permanent hypoparathyroidism, recurrence of the goitre, and the incidence of iatrogenic injuries after completion thyroidectomy. RESULTS: Patients were followed up for a median of 14.5 years (range 10-21). After total thyroidectomy 2 patients (3%) developed temporary palsy of the recurrent laryngeal nerve but there were no permanent lesions; and 24 (35%) developed temporary and 2 (3%) permanent hypoparathyroidism. After subtotal thyroidectomy 2 (3%) developed temporary and 1 (1%) permanent palsy of the recurrent laryngeal nerve; and 13 (18%) developed temporary and 1 (1%) permanent hypoparathyroidism. In addition, there were 10 recurrent goitres (14%). After completion thyroidectomy (n = 9) there were 2 cases of temporary and 1 of permanent palsy of the recurrent laryngeal nerve, and 2 cases of temporary and 2 of permanent hypoparathyroidism. CONCLUSION: Total thyroidectomy is the procedure of choice for the treatment of benign nodular goitre.