The D-repeat polymorphism in the ASPN gene and primary knee osteoarthritis in a Mexican mestizo population: a case-control study.

BACKGROUND: A genetic association between osteoarthritis (OA) and a polymorphism in the aspartic acid (D) repeat of the asporin (ASPN) gene has been reported in Japanese, Han Chinese, Greek and UK Caucasian populations of patients having knee and hip OA. Such an association has not been previously described among the Mexican mestizo population. The aim of this study was to analyze the association of the ASPN gene D-repeat polymorphism in a Mexican mestizo population with primary knee OA as well as in healthy controls. MATERIALS AND METHODS: A case-control study was conducted on a Mexican mestizo population of northern Mexico. The repeat polymorphism was genotyped in 440 subjects (218 cases and 222 healthy controls). Primary knee OA was diagnosed according to American College of Rheumatology and Kellgren-Lawrence criteria, and allelic association was examined adjusting for other risk variables. RESULTS: After adjusting for some covariates, menopause and the D16 allele showed a trend toward being risk factors for knee OA in a Mexican mestizo population. Also, the D12 allele could be considered as a protective factor. CONCLUSIONS: These findings suggest that polymorphisms within the ASPN gene could influence knee OA susceptibility, but these associations must be confirmed by independent studies in larger samples and different ethnic groups to support the role of the D-repeat polymorphism in the ASPN gene as risk or protection factors for knee OA in a Mexican population.

Identification of chromosome inheritance modifiers in Drosophila melanogaster.

Faithful chromosome inheritance is a fundamental biological activity and errors contribute to birth defects and cancer progression. We have performed a P-element screen in Drosophila melanogaster with the aim of identifying novel candidate genes involved in inheritance. We used a "sensitized" minichromosome substrate (J21A) to screen approximately 3,000 new P-element lines for dominant effects on chromosome inheritance and recovered 78 Sensitized chromosome inheritance modifiers (Scim). Of these, 69 decreased minichromosome inheritance while 9 increased minichromosome inheritance. Fourteen mutations are lethal or semilethal when homozygous and all exhibit dramatic mitotic defects. Inverse PCR combined with genomic analyses identified P insertions within or close to genes with previously described inheritance functions, including wings apart-like (wapl), centrosomin (cnn), and pavarotti (pav). Further, lethal insertions in replication factor complex 4 (rfc4) and GTPase-activating protein 1 (Gap1) exhibit specific mitotic chromosome defects, discovering previously unknown roles for these proteins in chromosome inheritance. The majority of the lines represent mutations in previously uncharacterized loci, many of which have human homologs, and we anticipate that this collection will provide a rich source of mutations in new genes required for chromosome inheritance in metazoans.

Concomitant mitral valve or atrial septal defect surgery and the modified Cox-maze procedure.

Atrial fibrillation (AF) is generally associated with rheumatic valve disease and atrial septal defects (ASD) in young adults. Surgical correction of both disorders fails to convert to sinus rhythm or prevent further episodes of paroxysmal or chronic AF in most patients. The role and efficacy of combining mitral valve surgery or ASD correction with AF surgery in this setting has not been widely addressed and remains to be established. The present study prospectively assessed the recovery of sinus rhythm, functional status, and atrial function in 21 patients (mean age 42 +/- 9.2 years) who underwent a modified Cox-maze procedure concomitant with mitral valve or ASD surgery at our institution between March 1993 and February 1995. Seventeen (81%) had chronic AF, and 4 (19%) had paroxysmal AF, with a mean AF duration of 3.5 +/- 3.6 years (range 0.6 to 15.3). Concomitant surgery was performed in 9 patients (42.9%) with mitral stenosis, 5 (23.8%) with mitral regurgitation, 1 (4.8%) with mitral and aortic regurgitation, and 3 (14.3%) with ASD. Eighteen patients (86%) were in New York Heart Association class II to IV before operation. Doppler echocardiography was performed in all patients before surgery, and 1 week, and 3 and 6 months after surgery in patients maintaining sinus rhythm. One patient with severe mitral stenosis and depressed ventricular function died in the immediate postoperative period. Sinus rhythm was restored in the immediate postoperative period in 7 patients (35%), and in another 10 patients (50%) before discharge (mean 5.8 +/- 2 days). Overall, sinus rhythm was restored before discharge in 17 patients (85%); 3 (15%) patients required antiarrhythmic therapy. Doppler echocardiography performed 3 months after surgery documented atrial contractility (A and E waves) in 12 patients (71%). After a mean follow-up period of 8 months (range 3 to 23), 18 (90%) remained in sinus rhythm. Sinus rhythm was successfully restored and maintained in most patients with drug refractory AF undergoing a concomitant Cox-maze procedure with mitral valve or ASD surgery improving atrial function and New York Heart Association class.

Burn of the elbow: the role of the radial forearm island flap.

The coverage of posterior elbow defects after debridement of burns is usually done by skin flaps from adjacent chest or abdomen in a two-stage operation. Other possibilities are local flaps and free-tissue transfer. A proximally based radial forearm flap for the cover of a 5-day-old burn is presented. It is considered to be indicated in large defects of the posterior surface of the elbow, including several centimetres of the triceps tendon.

[Permanent AV junction (Coumel type) reciprocal tachycardia]. / Taquicardia reciprocante permanente de la unión AV (tipo Coumel).

UNLABELLED: Permanent auriculo-ventricular junctional reciprocating tachycardia is a special form of tachycardia usually incessant, secondary to an slow retrograde conduction pathway. OBJECTIVE: To establish the clinical, electrophysiological characteristics and therapy results in patients with this diagnosis. METHOD: Descriptive study. RESULTS: Nine patients with average age 28.1 +/- 19.2 years, six women. Seven patients presented with dyspnea or palpitations. The left ventricular ejection fraction before treatment was 43.3 +/- 19.5%. The electrocardiographic findings were: heart rate of 139.2 +/- 16.7 bpm, QRS 78.9 +/- 16.2 ms and RP'/P'R relation of 1.8 +/- 0.5. The location of the accessory pathways was: right postero-septal in seven (77.7%), left lateral in one (11.15%) and left postero-lateral in one (11.15%). Radiofrequency ablation was performed in eight patients with an 87.5% success rate, two cases were taken to surgery with successful treatment, one of them after percutaneous ablation failure. Those with systolic left ventricular dysfunction recover their function in the follow-up. Any case has recurred. CONCLUSIONS: In our center, permanent auriculo-ventricular junctional reciprocating tachycardia is an infrequent arrhythmia, predominantly in women and associated with reversible left ventricular dysfunction. Right postero-septal was the most frequent localization of the pathway. Radiofrequency ablation was performed successfully in 87.5% of cases.

Coverage of elbow ulcers in a patient with Werner's syndrome.

We present the repair of trophic ulcers on both elbows in a patient with Werner's syndrome. There is little information in the surgical literature about the repair of ulcers in patients with this rare entity. The technique used for coverage of the left elbow was an adipofascial turnover flap and on the right elbow an "extended" lateral arm island flap. We analyze the superior result of the latter technique and its advantages over other alternatives. It is a one-stage procedure that is reasonably easy and safe; it avoids elbow and shoulder stiffness; it avoids sacrifice of a principal artery or muscle; the donor site can be closed directly; and the padding obtained is optimum. With the "extended" dissection, we can obtain an additional advance to cover the elbow defect.

One-stage repair of hypospadias with a bipaddled preputial island flap.

A one-stage repair of hypospadias with a bipaddled preputial island flap is described. Although the bilaminar island flap has been described before, the technique reported contains some variations. Sixteen cases are reported with good functional and aesthetic results. The complications were two stenoses (one with a simultaneous fistula) at the proximal anastomosis of the urethroplasty. All flaps survived and no meatal strictures were encountered with this technique.

[Neurocardiogenic syncope in children]. / Síncope neurocardiogénico en población pediátrica.

Between december of 1994 and june 1997, 90 children and adolescents were referred to the Shaio Clinic Foundation for evaluation of recurrent unexplained syncope. Head-up tilt testing was positive in 45 (50%), 23 male, with a mean age of 12.7 years (range 5-17 years). The response during Head-up tilt testing was predominantly vasodepressor (57%), followed by mixed in 24% and cardioinhibitory in the remaining 17%. The majority of patients had a positive response during pharmacological phase with isoproterenol infusion at a mean time of 17 +/- 8 minutes. Head-up tilt is a safe diagnostic test and defines the cause of unexplained syncope in up to 50% of children and young adults with recurrent syncope. The management was based on education, control of risk factors and psychological and/or physical rehabilitation. In the 15.2 months follow up we observed complete remission or a significant reduction of symptoms in 95% of the cases. Only 5% of the patients persisted or had worsening of their symptoms.