"Snake-jaw" graft for aortic valve exposure during LVAD implant.

We report a simple technique of LVAD outflow anastomosis as patch closure of a standard aortotomy during left ventricular assist device (LVAD) implant. Benefits are a single aortotomy, a low graft leaving ample native aorta for transplant, a wide-open LVAD outflow, and excellent aortic valve exposure.

Integrating resuspension with remodeling: early results with a new valve-sparing aortic root reconstruction technique.

BACKGROUND AND AIM OF THE STUDY: Currently, two different valve-sparing aortic root reconstruction methods are utilized, namely reimplantation and remodeling. Herein are reported the authors' early results with a new technique that integrates the two procedures. METHODS: Seven patients (age range: 25-69 years) underwent valve-sparing aortic root replacement with a new technique that integrates the principles of the David and Yacoub operations. The preoperative aortic root sizes were 4.9 to 7.0 cm, and six patients had aortic regurgitation (grade 1+ to 3+). Surgery was divisible into four stages: (i) External subcommissural (downsizing) annuloplasty; (ii) graft sizing and valve competency assessment with saline squirt test; (iii) sewing the individual tongues of a hand-scalloped Hemashield graft to the annular tissue with subvalvular pledgeted mattress sutures; and (iv) running suture lines to the commissural aspects of the aortic wall, followed by coronary reimplantation. RESULTS: All patients survived surgery. Intraoperative transesophageal echocardiography showed trace aortic incompetence (AR) in five patients, and mild or moderate AR each in one patient. Over a two-year period the technique was improved to the above-described, four-stage approach, which resulted in only trace AR in the final three patients. Early serial transthoracic echocardiography confirmed stable root dimensions and no progression of AR, except in an early patient. CONCLUSION: In the described technique, graft sizing is strictly tied to early intraoperative valve competency testing after an initial reconstruction within the native aortic root. The operation is then converted into a modified remodeling by suturing the triple-tongued (Yacoub) graft to the true aortic annulus with subannular pledgets (David principle). The operation involves significantly less dissection around the aortic root, and the entire scalloped annulus is stabilized in between the graft material and pledgets.

Microcirculation of the fingers in Raynaud's syndrome: (99m)Tc-DTPA imaging.

AIM: We investigated the circulatory characteristics of patients suffering of primary and secondary Raynaud's syndrome. PATIENTS, METHODS: We examined 106 patients presenting with the classical symptoms of Raynaud's syndrom (47 primary, 59 secondary) by hand perfusion scintigraphy developed by our Department of Nuclear Medicine. After visual evaluation we analyzed the images semiquantitatively, using the finger to palm ratio. We statistically compared the patients with primary and those with secondary Raynaud's syndrome. RESULTS: By visual evaluation we constated regional perfusion disturbances in 42 from 59 patients with secondary Raynaud's syndrome. However, this was observed in only 3 from 47 patients with the primary form of this disease. This difference was statistically significant (p<0.001). Semiquantitative analysis showed that the finger/palm ratios (FPR) were significantly lower (p<0.05) for the patients with primary Raynaud's syndrome. No differences in the FPR values concerning sex or right and left side. CONCLUSION: The hand perfusion scintigraphy with (99m)Tc-DTPA is a noninvasive, cost effective diagnostic tool, which objectively reflects the global and regional microcirculatory abnormalities of the hands, and provides quantitative data for follow-up.

Secretory breast cancer in a 7.5-year old boy.

Breast cancer is extremely rare in children, and consequently no consensus has been reached on the optimal treatment modalities. The medical history and treatment plan for a 7.5-year old male breast cancer patient is described. Radical mastectomy with sentinel node biopsy was performed in October 2002. As no malignant cells were detected in the sentinel node, and no BRCA1-2 mutations were detected, no further radio- or chemotherapy was performed. A "wait-and-see" policy was decided on. Further treatment will be given if this becomes necessary with the development of metastases.

Retrospective evaluation of 5-fluorouracil-interferon-a aTreatment of advanced colorectal cancer patients.

The authors describe the retrospective analysis of treatment by 5-fluorouracil and interferon-a aof 34 patients with advanced colorectal cancer. An average of 4.6 treatment cycles (3 12) was applied. Complete remission was not observed; partial remission was observed in 8 patients; in 13 patients no change occurred and progression was detected in 14 cases. Remission rate was 22.8%, mean response time was 5.2 (3 12) months, mean progress-free survival 5.6 (0 22) months. Mean survival from the start of treatment was 11.9 (1 42) months and from the establishment of the diagnosis 26.1 (3 60) months. Severe life-threatening side-effects did not occur; other side-effects such as fever, nausea, diarrhea, leucopenia, and anemia responded to drugs. Treatment by 5-FU and interferon, in accordance with other authors findings, improved survival and well-being of patients but no breakthrough has been achieved.

[Comments on Raynaud syndrome based on laser-Doppler studies]. / Eszrevételek a Raynaud-szindrómáról lézer Doppler-mérésekkel szerzett tapasztalatok alapján.

The authors have in their care 286 Raynoud syndrome patients. They present their experience in the study of the microcirculation and the treatment of these patients. In 81% (232 patients, 196 women and 36 men) of the cases they did not find any underlying diseases. In the group of the patients with secondary Raynaud's syndrome (35 women and 19 men) underlying diseases, possibly leading to microcirculatory disturbances, could be identified. In the primary Raynaud's syndrome group the main capillary diameter measured by capillary microscopy was 15 +/- 4 micron. In patients with progressive systemic sclerosis the mean diameter was 43 +/- 9 micron. In the group of women with primary Raynaud's syndrome the authors performed laser Doppler measurements of the nailfold microcirculation. During the reactive hyperaemia test basal values (18.2 +/- 6.2 Perfusin Units, P. U.) and reactive hyperaemia values (a mean of 180% growth compared to the basal values) were similar to that perfusion values referred in the literature. In the progressive systemic sclerosis group the basal flow (9.3 +/- 3.3 P. U.) and the reactive hyperaemia (a mean of 20% increase compared to basal values) were significantly lower. Concerning the fact that the progression of Raynaud's syndrome into systemic autoimmune disease--mainly to progressive systemic sclerosis may be predicted, it is important to follow up carefully all patients with Raynaud's syndrome.

[Clinical evaluation of local lipiodol chemoembolization therapy in primary and secondary hepatic tumors]. / Primer és szekunder májdaganatos betegek lipiodolos kemoembolizációval végzett helyi kezelésének klinikai értékelése.

The authors treated with locoregional lipiodol chemoembolization 32 patients suffering from primary and secondary liver malignancies. They present the clinical results of the 22 patients who received at least 2 treatments. Distribution of patients: 17 men, 5 women, mean age 56.2 (43-80) years. Seven patients suffered from primary liver carcinoma; regarding the Child's staging of the tumors 4 patients were in Child A, 3 patients in Child B. In 15 cases the treatment indication was secondary liver cancer. The primary tumors in these secondary liver cancer cases were: one case lung cancer, 11 colon (2 cases rectum) cancer, 2 cases pancreas cancer, one case gastric carcinoma. The 22 patients received in total 97 cycles of therapy. After the selective catheterisation of the hepatic artery adriamycin, mitomycin C, 5-fluorouracil or lipiodol was administered. During the mean follow up time of 9 months (3-15 months) remission could be observed in 6/22 patients. The side effects were preventable or medically treatable. It can be concluded that in the case of well-selected cases of non-resectable liver malignancies local chemoembolization could be beneficial, as it could slow down the progression of the underlying disease with the maintainment or even improvement of the quality of life.

MLH1 and MSH2 mutation screening in HNPCC families of Hungary - Two new MMR gene mutations.

INTRODUCTION: Hereditary Non-Polyposis Colorectal Cancer is an inherited disease with deleterious germline mutations in the DNA mismatch repair genes causing the development of colon cancer and other malignancies. This is the first study in Hungary screening the population of our colorectal cancer patients in order to identify the prevalence of the disease. METHODS: In families who met the Modified Amsterdam and Bethesda Criteria the removed tumor tissue was first examined by immunohistochemistry and microsatellite instability analysis. Those cases which showed high microsatellite instability underwent DNA sequencing and multiple ligation dependent probe amplification. RESULTS: Of the 1576 patients with colorectal cancer underwent screening for the modified Amsterdam and Bethesda criteria, 69 (4.4%) and 166 (10.5%) fulfilled the criteria respectively. 15 patients (31%) of the Amsterdam positive group and 19 patients from the Bethesda positive (18.1%) were MSI-H. There were 8 pathogenic mutations identified in 9 families (60%) in the Amsterdam positive group. 5 mutations were found in 5 families (26%) in the Bethesda positive group. 12 pathogenic mutations were identified, two of these are newly identified, and being published first in this work. These two new mutations were located on MLH1 (g.31276_35231del) and MSH2 (c.969_970delTC) genes. CONCLUSION: The prevalence of the mutations in the MLH1 and MSH2 genes was almost equal in our Hungarian colorectal cancer patients. One mutation in the MLH1 gene (c.143A > C; p.Q48P) was identified in three different families. Whether this mutation is the most frequent in the Hungarian population is still unidentified and warrant further investigation.

Prothrombotic polymorphisms in patients with Raynaud's phenomenon and migraine.

We have investigated the prevalence and possible association of inherited prothrombotic risk factors in patients with primary Raynaud's phenomenon (PRP) and migraine. We performed genotypic analysis of FVLeiden, prothrombin G20210A, methyltetrahydrofolate reductase C677T and FXIII-A V34L mutations in these patients. Two hundred patients with primary Raynaud's phenomenon of Hungarian origin with migraine (57 female, one male, mean age of 43.8 ± 11.5 years) or without migraine (101 female, 41 male, mean age of 41.8 ± 14.5 years) were included in this study. Duration of PRP among migrainous patients was significantly longer than patients without migraine. The prevalence of methyltetrahydrofolate reductase T677 allele among patients with migraine was significantly higher than in patients without migraine (odds ratio 2.1, 95% CI: 1.4-3.3, p = 0.001). The prevalence of other thrombosis-associated alleles did not differ between patients with or without migraine. FVLeiden mutation, prothrombin G20210A mutation, and FXIII-A V34L polymorphism have no apparent effect on the occurrence of migraine in PRP.

Ross procedure with a composite autograft using stretch Gore-Tex material.

In an attempt to allow physiologic expansion of the pulmonary autograft, yet limit late root dilation, we used stretch Gore-Tex material (W. L. Gore & Assoc, Flagstaff, AZ) as an external wrap. Follow-up cardiac computed tomography with reconstructed three-dimensional and dynamic images confirmed normal "triple bulge" sinus Valsalva geometry and preserved natural systolic expansion of the neoaortic root.

Valve-sparing aortic root reconstruction using in situ three-dimensional measurements.

BACKGROUND: The truncated cone overall geometry of the native aortic root, an important factor in maintaining valvular competence, is significantly altered in cases of root aneurysms. We hypothesized that an early trial restoration of valve competence within the native aortic root followed by in situ three-dimensional measurements may lead to a more predictable functional reconstruction. METHODS: The operation started with downsizing annuloplasty followed by sinotubular junction plication until full valve competence was observed and tested with the saline squirt test. Subsequent measurements (basal ring and sinotubular junction size, the depth of each sinus of Valsalva) formed the basis of graft sizing and tailoring. Reconstruction was completed with a new proximal suture line technique combining David subannular pledgeted fixation with Yacoub remodeling. RESULTS: Ten patients were operated on during a 3-year period. Intraoperative (nonpressurized) competence by open testing translated into good postoperative valve function seen on transesophageal echocardiography. In situ measurements were done in the last 7 patients, and in 5 of them the restored root geometry was of a reverse cone (sinotubular junction 2 to 4 mm larger than basal ring size). CONCLUSIONS: Rebuilding the aortic root based on in situ measurements with a fully competent aortic valve is a conceptually new surgical approach. Our observations suggest that postoperative valve competence, particularly with elongated valve leaflets, may not depend on the normal truncated cone geometry.

A new mutation in Muir-Torre syndrome associated with familiar transmission of different gastrointestinal adenocarcinomas.

Hereditary Nonpolyposis Colorectal Carcinoma (HNPCC) is the most frequent inherited disease which can lead to the development of tumors in the colon and other locations. Its genetic basis is related to the germline mutation of the Mismatch Repair (MMR) genes. Muir-Torre syndrome is considered one of the subtypes of this disease, in which the HNPCC tumor spectrum is frequently associated with sebaceous carcinoma of the skin or keratoacanthoma. A 57 years old male patient is presented with a mucinous carcinoma of the caecum and an adenocarcinoma of the pancreas head. A malignant sebaceous carcinoma was removed from his left neck area. His family history was significant for two cases of colon carcinoma, two cases of stomach cancer and a case of metacron endometrial and skin tumor as well. Both the colon carcinoma and the skin tumor proved to be microsatellite unstable. An Arg>Pro switch missense mutation was found in codon 265 of the hMLH1 gene. This error was found in 4 other members of his family. The detected genetic alteration was considered pathogenic and was not published yet in English literature. The significance of this particular case is the rare tumor association in a patient with Muir-Torre syndrome (MTS). In cases of sebaceous skin lesions, evaluation of family history is of utmost importance in the early detection of HNPCC and in the follow up care of family members with the particular mutation.

Peri-operative alemtuzumab (Campath-1H) and plasmapheresis for high-PRA positive lymphocyte crossmatch heart transplant: a strategy to shorten left ventricular assist device support.

Patients on a left ventricular assist device (LVAD) often have a high level of panel-reactive antibodies (PRA). Conventional therapy is to await a heart from a negative prospective-crossmatch donor. We transplanted three high-PRA patients with non-crossmatched hearts, using intra- and post-operative plasmapheresis and long-term T-/B-/plasma-cell therapy with alemtuzumab. Three highly sensitized patients (70%, 94% and 96% T-PRA; 63%, 24% and 73% B-PRA) were transplanted after 29, 187 and 94 days LVAD support. The first patient (Case 1) had an erroneous prospective negative crossmatch (due to an outside laboratory's use of the wrong patient's serum) with immediate allograft dysfunction. The correct serum showed a strongly positive crossmatch; plasmapheresis followed by alemtuzumab (20 mg intravenously) shortly after arrival in the ICU resulted in rapid hemodynamic improvement. Encouraged by this success, the next two patients (Cases 2 and 3) underwent LVAD explant and heart transplant with the next available ABO-identical, non-crossmatched donors, using plasmapheresis on bypass immediately before heart implant and alemtuzumab 20 mg intravenously upon ICU arrival, with uneventful courses. All three patients had positive retrospective T- and B-cell crossmatches. Maintenance immunosuppression consisted of cyclosporine and routine prednisone taper, with plasmapheresis as needed (Patient 1, x10; Patient 2, x5) based on diastolic dysfunction. Mycophenolate mofetil was started as a third agent several months post-transplant. Patients are presently New York Heart Association (NYHA) Class I at 26, 16 and 13 months post-transplant. In this small series with follow-up, immediate antibody removal with plasmapheresis, combined with alemtuzumab, a long-acting antibody to CD52 (expressed on T, B and some plasma cells), appears effective in allowing transplantation in sensitized, positive crossmatch recipients. Expanded use of this strategy could shorten LVAD support in many sensitized patients.