Bundle branch re-entry ventricular tachycardia in a patient with complete heart block

A 58-year-old male patient presented episodes of palpitations in the context of atrioventricular block treated by a dual-chamber pacemaker. Clinical and electrophysiological studies identified the tachyarrhythmia to be bundle branch re-entrant ventricular tachycardia, which was successfully treated by radiofrequency ablation of the proximal right bundle branch.

Modified complete synovectomy prevents recurrence in synovial chondromatosis of the hip

Synovial chondromatosis of the hip is a rare disorder with few published reports regarding treatment and outcomes, and therefore, selecting the optimal surgical treatment is difficult. We reviewed eight patients with monoarticular synovial chondromatosis of the hip who had joint débridement and a modified total synovectomy performed through a surgical hip dislocation with a trochanteric flip osteotomy. Patients were evaluated for recurrence of disease, progression of osteoarthritis, clinical outcomes, and subsequent reoperations. The minimum followup was 4 years (mean, 6.5 years). At final review, no patient had recurrence of disease. Two patients had progression of osteoarthritis requiring total hip arthroplasties at 5 and 10 years after the initial surgical intervention. These patients did not show recurrent disease on histologic examination of the synovial membrane at the time of the arthroplasty. The six patients with preserved joints were followed up for a mean of 6.2 years. The mean Merle d'Aubigné and Postel score in this group was 16.5 points (range, 15-18 points) at the latest followup. There were no major or minor complications related to this treatment. Our midterm results suggest that open débridement with modified total synovectomy is an effective treatment that prevents recurrence of disease and provides substantial pain relief. Surgical hip dislocation allows safe and complete access to the joint for débridement and synovectomy with no added morbidity.

Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC)

Ornithine transcarbamylase (OTC; EC 2.1.3.3) is a hepatic enzyme involved in ammonia elimination via the urea cycle. Since the sequence of the OTC gene was reported many types of mutations continue to be found in OTC deficiency patients, continuing to increase the already wide mutational spectrum known for this gene. In this study we present the clinical, biochemical and molecular features of thirteen late-onset OTC deficiency patients. Mutations were identified in all these patients, among which six were novel point substitutions (L59R, A137P, L148S, Y176L, L186P, and K210N) and one was a 2-bp deletion at exon 4 (341-342delAA). In addition, a de novo genomic deletion of maternal origin encompassing exons 1 to 5 was also identified by the analysis of LD patterns using intragenic polymorphic markers. This work exemplifies the potential value of population genetic studies for the detection of large deletions.

Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration

PURPOSE: To report a large, consanguineous Algerian family affected with Leber congenital amaurosis (LCA) or early-onset retinal degeneration (EORD). METHODS: All accessible family members underwent a complete ophthalmic examination, and blood was obtained for DNA extraction. Homozygosity mapping was performed with markers flanking 12 loci associated with LCA. The 15 exons of TULP1 were sequenced. RESULTS: Seven of 30 examined family members were affected, including five with EORD and two with LCA. All patients had nystagmus, hemeralopia, mild myopia, and low visual acuity without photophobia. Fundus features were variable among EORD patients: typical spicular retinitis pigmentosa or clumped pigmented retinopathy with age-dependent macular involvement. A salt-and-pepper retinopathy with midperipheral retinal pigment epithelium (RPE) atrophy was present in the older patients with LCA, whereas the retina appeared virtually normal in the younger ones. Both scotopic and photopic electroretinograms were nondetectable. Fundus imaging revealed a perifoveal ring of increased fundus autofluorescence (FAF) in the proband, and optical coherence tomography disclosed a thinned retina, mainly due to photoreceptor loss. Linkage analysis identified a region of homozygosity on chromosome 6, region p21.3, and mutation screening revealed a novel 6-base in-frame duplication, in the TULP1 gene. CONCLUSIONS: Mutation in the TULP1 gene is a rare cause of LCA/EORD, with only 14 mutations reported so far. The observed intrafamilial phenotypic variability could be attributed to disease progression or possibly modifier alleles. This study provides the first description of FAF and quantitative reflectivity profiles in TULP1-related retinopathy.

Hospital use of young children in Switzerland: a nation-wide study based on a complete survey over 4 years

Background Young children are known to be the most frequent hospital users compared to older children and young adults. Therefore, they are an important population from economic and policy perspectives of health care delivery. In Switzerland complete hospitalization discharge records for children [<5 years] of four consecutive years [2002–2005] were evaluated in order to analyze variation in patterns of hospital use. Methods Stationary and outpatient hospitalization rates on aggregated ZIP code level were calculated based on census data provided by the Swiss federal statistical office (BfS). Thirty-seven hospital service areas for children [HSAP] were created with the method of "small area analysis", reflecting user-based health markets. Descriptive statistics and general linear models were applied to analyze the data. Results The mean stationary hospitalization rate over four years was 66.1 discharges per 1000 children. Hospitalizations for respiratory problem are most dominant in young children (25.9%) and highest hospitalization rates are associated with geographical factors of urban areas and specific language regions. Statistical models yielded significant effect estimates for these factors and a significant association between ambulatory/outpatient and stationary hospitalization rates. Conclusion The utilization-based approach, using HSAP as spatial representation of user-based health markets, is a valid instrument and allows assessing the supply and demand of children's health care services. The study provides for the first time estimates for several factors associated with the large variation in the utilization and provision of paediatric health care resources in Switzerland.

Complete arterial revascularization in multivessel coronary artery disease with 2 conduits (skeletonized grafts and T grafts)

BACKGROUND: Complete arterial CABG is a surgical option to improve long-term results in the treatment of coronary artery disease (CAD). Harvesting of multiple arterial grafts is commonly associated with prolonged operating times and increased trauma. By use of new operative techniques (skeletonized grafts and the T-graft approach), CABG in multivessel CAD is now possible with only 2 grafts. We present our experience in the use of these techniques on a routine basis. METHODS AND RESULTS: Between March 1996 and September 1999, 490 patients (aged 61+/-9 years, 20% female) underwent complete arterial CABG. Left ventricular ejection fraction ranged from 15% to 85% (mean 59+/-15%). Triple-vessel disease was present in 88% of the patients. The incidence of diabetes mellitus was 32% (14% insulin dependent). Either both internal thoracic arteries (ITAs) (23%) or the left ITA and radial artery (77%) were used as conduits. In 85% of the patients, a T graft was created. Mean operating time was 198+/-46 minutes; bypass time, 82+/-25 minutes; and ischemic time, 58+/-22 minutes. Two to 7 (mean 4.1+/-0.9) anastomoses were performed per patient. Perioperative intra-aortic balloon pump was necessary in 12 patients (2.4%). The rate of perioperative myocardial infarction was 1.2%. Sternal complications occurred in 1. 0%, and in-hospital mortality was 2.2%. Postoperative coronary angiography in 172 patients (35%) documented excellent patency rates (left ITA 98.3%, right ITA 96.5%, and radial artery 96.6%). CONCLUSIONS: Complete arterial revascularization in multivessel CAD is possible with the use of only 2 grafts with good perioperative results. This approach allows for complete arterial CABG on a routine basis.

Long-term follow-up after complete resection of well-differentiated cancer confined to the thyroid gland

BACKGROUND: Papillary or follicular thyroid carcinomas exhibit a relatively benign course. Hence, long-term follow-up studies with well-defined disease stages and treatment details are needed to evaluate treatment strategies. METHODS: Patients who underwent complete resection of well-differentiated thyroid carcinoma (WDTC) confined to the thyroid gland between 1972 and 1990 identified from a prospective database were assessed. Follow-up was performed by interview, review of patient charts, and analysis of the Death Registry. Primary endpoints were overall survival (OS) and disease-specific survival (DSS). Review of histology was performed and extent of thyroid resection, postoperative therapy, and recognized prognostic factors but not lymphadenectomy were evaluated. RESULTS: Of 2,867 patients, 213 had complete resection of WDTC confined to the thyroid gland. Follow-up was completed in 166 patients with median age 54.2 (range, 20-85) years, and median follow-up of 27.2 (range, 15.6-34.5) years. The 10- and 20-year OS was 71 and 55%, respectively. DSS at 10 and 20 years was 81 and 69%, respectively, and correlated with age, histology, tumor size, radio-iodide ablation (RIA), and external beam irradiation (EBR) treatment. No patient died of WDTC more than 18 years after resection. Total or near-total thyroidectomy without lymphadenectomy was not superior to partial thyroidectomy. In multivariate analysis for DSS, age was the dominant factor, which correlated with histology. CONCLUSION: After a median follow-up of 27 years, about one-third of patients died of WDTC. Age, histology and postoperative therapy but not extent of thyroid resection determined DSS.

The coevolution of cooperation and dispersal in social groups and its implications for the emergence of multicellularity

Background Recent work on the complexity of life highlights the roles played by evolutionary forces at different levels of individuality. One of the central puzzles in explaining transitions in individuality for entities ranging from complex cells, to multicellular organisms and societies, is how different autonomous units relinquish control over their functions to others in the group. In addition to the necessity of reducing conflict over effecting specialized tasks, differentiating groups must control the exploitation of the commons, or else be out-competed by more fit groups. Results We propose that two forms of conflict – access to resources within groups and representation in germ line – may be resolved in tandem through individual and group-level selective effects. Specifically, we employ an optimization model to show the conditions under which different within-group social behaviors (cooperators producing a public good or cheaters exploiting the public good) may be selected to disperse, thereby not affecting the commons and functioning as germ line. We find that partial or complete dispersal specialization of cheaters is a general outcome. The propensity for cheaters to disperse is highest with intermediate benefit:cost ratios of cooperative acts and with high relatedness. An examination of a range of real biological systems tends to support our theory, although additional study is required to provide robust tests. Conclusion We suggest that trait linkage between dispersal and cheating should be operative regardless of whether groups ever achieve higher levels of individuality, because individual selection will always tend to increase exploitation, and stronger group structure will tend to increase overall cooperation through kin selected benefits. Cheater specialization as dispersers offers simultaneous solutions to the evolution of cooperation in social groups and the origin of specialization of germ and soma in multicellular organisms.

Nasolabial esthetics in children with complete unilateral cleft lip and palate after 1- versus 3-stage treatment protocols

PURPOSE: Facial esthetics play an important role in social interactions. However, children with a repaired complete unilateral cleft lip and palate usually show some disfigurement of the nasolabial area. To date, few studies have assessed the nasolabial appearance after different treatment protocols. The aim of the present study was to compare the nasolabial esthetics after 1- and 3-stage treatment protocols. MATERIALS AND METHODS: Four components of the nasolabial appearance (nasal form, nasal deviation, mucocutaneous junction, and profile view) were assessed by 4 raters in 108 consecutively treated children who had undergone either 1-stage closure (Warsaw group, 41 boys and 19 girls, mean age 10.8 years, SD 2.0) or 3-stage (Nijmegen group, 30 boys and 18 girls, mean age 8.9 years, SD 0.7). A 5-grade esthetic index of Asher-McDade was used, in which grade 1 indicates the most esthetic and grade 5 the least esthetic outcome. RESULTS: The nasal form was judged the least esthetic in both groups and graded 3.1 (SD 1.1) and 3.2 (SD 1.1). The nasal deviation, mucocutaneous junction, and profile view were scored from 2.1 (SD 0.8) to 2.3 (SD 1.0) in both groups. The treatment outcome after the Warsaw and Nijmegen protocols was comparable. Neither overall nor any of the 4 components of the nasolabial appearance showed intercenter differences (P > .1). CONCLUSIONS: The nasolabial appearance after the Warsaw (1-stage) and Nijmegen (3-stage) protocols was comparable. The technique of lip repair (triangular flap in Warsaw and Millard rotation advancement in Nijmegen) gave comparable results for the esthetics of the nasolabial area.