Arthroscopic Trapeziectomy and Suture Button Suspensionplasty: A Review of the Literature and Description of the "Three-Step Arthroscopic Trapeziectomy Technique".

In the last two decades, surgeons have rapidly developed arthroscopic techniques to treat basal joint osteoarthritis. Such techniques spare the joint capsule and ligaments, allow more accurate staging of cartilage degeneration to determine the most appropriate treatment, and decrease the risk of injury to the radial artery and superficial branch of the radial nerve. Arthroscopic resection arthroplasty of the trapezium can be performed as either partial or complete trapeziectomy. Many papers have described partial trapeziectomy but few have discussed complete trapeziectomy. Suture button implants avoid the drawbacks of temporary fixation using Kirschner wire, as well as the drawbacks of ligament reconstruction, which necessitates the sacrifice of a tendon and involves both wide exposure and scar tissue. This paper aimed to review the published data on the arthroscopic treatment of basal thumb osteoarthritis, with a special focus on stabilization using suture button suspensionplasty, and to present a technique that structures this procedure into three steps, allowing it to be performed in an easier, more organized, and faster way.

Arthroscopic "S"-shaped Ligamentoplasty for Floating Lunate.

The concurrence of tears of the scapholunate (SL) and lunotriquetral (LT) ligaments is not unusual and can also occur without an apparent perilunate dislocation. Badia and Khanchandani called this combined lesion a "floating lunate" because the ligamentous attachments on both sides of the lunate are absent and the lunate floats in a neutral position. There have been few published papers referring to the treatment of this kind of instability. In recent years, we have developed an arthroscopic ligamentoplasty for SL instability. However, this procedure is not indicated whether the LT ligament is also damaged. With this current modification, both the strongest portions of the SL and LT ligaments can be reconstructed without opening the joint, thereby avoiding an open approach. We have described this as an "S"-shaped ligamentoplasty, as the graft resembles an "S" as it travels inside the scaphoid, lunate, and triquetrum. The same postoperative early mobilization protocol can be applied to this kind of reconstruction.

Mutational screening of phospholamban gene in hypertrophic and idiopathic dilated cardiomyopathy and functional study of the PLN -42 C>G mutation.

BACKGROUND: Phospholamban is an endogenous sarcoplasmic reticulum calcium ATPase inhibitor with a regulatory effect on cardiac contraction/relaxation coupling. Mutations in the phospholamban gene (PLN) have been associated with primary cardiomyopathies. AIMS: To screen for PLN mutations in our population of patients with primary cardiomyopathies and to perform functional analysis of the mutations identified. METHODS: We performed SSCP mutational screening and DNA sequencing of the PLN gene in 186 patients with either hypertrophic or dilated cardiomyopathy. To study promoter strength we constructed reporter plasmids containing the luciferase gene and performed transient transfection analysis in C6 and C2C12 cell lines. RESULTS: The PLN -42 C>G mutation was found in one patient with late onset familial apical hypertrophic cardiomyopathy. This mutation decreased phospholamban promoter activity by 43% and 47%, in C6 and C2C12 cell lines respectively. One son had mild apical hypertrophic cardiomyopathy and carried the mutation, another son with normal ECG and echocardiogram also had the mutation. CONCLUSION: The PLN -42 C>G mutation is associated with a benign form of apical hypertrophic cardiomyopathy in this family, though the presence of a healthy adult carrier suggests that other genetic and environmental factors could be involved. Otherwise, mutations in the PLN gene are not a frequent cause of cardiomyopathies in our population.

[Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]. / Mutaciones en el gen de la cadena pesada de la betamiosina en pacientes con miocardiopatía hipertrófica.

INTRODUCTION AND OBJECTIVES: To determine the frequency of mutations in the beta-myosin heavy-chain gene (MYH7) in a cohort of patients with hypertrophic cardiomyopathy (HCM) and their families, and to investigate correlations between genotype and phenotype. METHODS: Single-strand conformation polymorphism analysis and sequencing of fragments with abnormal MYH7 gene mobility were carried out in 128 consecutive index patients with HCM. The phenotypes of patients with and without mutations were compared and the phenotypes of identified families were recorded. RESULTS: A total of 11 mutations were found in 13 families (10%); 7/11 had been previously described. The I736T mutation was found in three families and the A797T in two. One patient had two mutations (i.e., I736T and R787H). Mutations were more frequent in patients with a family history of sudden death (31%) and in those with severe hypertrophy (39% had a thickness > or = 30 mm). Mutations were found in 29 of 42 members of the 13 families, including six family members (20%) who were healthy carriers and aged < or = 36 years. Sudden death had occurred in eight members of four families: four in two families with the I736T mutation, one in a family with A797T, one in a family with R870H, and two in a family with A901P. CONCLUSIONS: MYH7 mutations were present in 10% of our families. Mutations were more frequent in patients with a family history of sudden death and in those with severe hypertrophy. Most mutations had been described previously. Some appeared in several families. For some mutations, the correlation between genotype and phenotype was stable, while for others, there were marked differences between the phenotypes of the index patients and their relatives, suggesting the presence of additional genetic factors that have yet to be identified.

Mutaciones en el gen de la cadena pesada de la betamiosina en pacientes con miocardiopatía hipertrófica / Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy

Introducción y objetivos. Determinar la frecuencia de mutaciones en el gen de la cadena pesada de la betamiosina (MYH7) en una cohorte de pacientes con miocardiopatía hipertrófica (MCH) y en sus familiares, y analizar la correlación entre genotipo y fenotipo. Métodos. Detección de polimorfismo en la conformación de hebras monocatenarias y secuenciación de fragmentos con movilidad anormal del gen MYH7 en 128 casos índice consecutivos con MCH. Comparación de fenotipo entre pacientes con y sin mutaciones y descripción del fenotipo de las familias identificadas. Resultados. Identificamos 11 mutaciones en 13 familias (10%), 7/11 previamente descritas. La mutación I736T se identificó en 3 familias y la A797T en 2. Un caso presentó 2 mutaciones (I736T y R787H). Las mutaciones fueron más frecuentes en pacientes con antecedentes familiares de muerte súbita (31%) y con hipertrofia severa (39% con grosor ≥ 30 mm). Había mutación en 29 de 42 miembros de las 13 familias, incluidos 6 (20%) portadores sanos (edad ≤ 36 años). Había antecedentes de muerte súbita en 9 familiares de 4 familias (4 en 2 familias con I736T, uno con A797T, uno con R870H y 2 con A901P). Conclusiones. Las mutaciones en MYH7 aparecen en un 10% de nuestras familias y son más frecuentes cuando hay antecedentes familiares de muerte súbita o hipertrofia severa. La mayor parte había sido descrita previamente y algunas se repiten en varias familias. Ciertas mutaciones muestran una correlación genotipo-fenotipo estable, mientras que en otras, las marcadas diferencias entre casos índice y familiares hacen sospechar la presencia de factores genéticos adicionales que debemos identificar

Introduction and objectives. To determine the frequency of mutations in the beta-myosin heavy-chain gene (MYH7) in a cohort of patients with hypertrophic cardiomyopathy (HCM) and their families, and to investigate correlations between genotype and phenotype. Methods. Single-strand conformation polymorphism analysis and sequencing of fragments with abnormal MYH7 gene mobility were carried out in 128 consecutive index patients with HCM. The phenotypes of patients with and without mutations were compared and the phenotypes of identified families were recorded. Results. A total of 11 mutations were found in 13 families (10%); 7/11 had been previously described. The I736T mutation was found in three families and the A797T in two. One patient had two mutations (i.e., I736T and R787H). Mutations were more frequent in patients with a family history of sudden death (31%) and in those with severe hypertrophy (39% had a thickness ≥ 30 mm). Mutations were found in 29 of 42 members of the 13 families, including six family members (20%) who were healthy carriers and aged ≤ 36 years. Sudden death had occurred in eight members of four families: four in two families with the I736T mutation, one in a family with A797T, one in a family with R870H, and two in a family with A901P. Conclusions. MYH7 mutations were present in 10% of our families. Mutations were more frequent in patients with a family history of sudden death and in those with severe hypertrophy. Most mutations had been described previously. Some appeared in several families. For some mutations, the correlation between genotype and phenotype was stable, while for others, there were marked differences between the phenotypes of the index patients and their relatives, suggesting the presence of additional genetic factors that have yet to be identified

Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

LMNA mutations have been associated with familial or sporadic dilated cardiomyopathy (DC), with or without conduction system disease. We studied the LMNA gene in 67 consecutive patients with DC (18 had familial DC, 17 had possible familial DC, and 32 sporadic DC). From genomic DNA, coding regions of the LMNA gene were amplified by polymerase chain reaction, studied by single-strand conformation polymorphism, and cycle sequenced. Mutations were confirmed by restriction fragment length polymorphism. Two disease-causing mutations were found in families A and B. In family A, a novel R349L mutation was present in the mother and her identical twin daughters. They required cardiac transplantation at 36, 18, and 20 years of age. In family B, the R190W mutation was present in 2 cousins with DC and without conduction system disease (1 had cardiac transplantation at 45 years of age and 1 died suddenly at 46 years of age) and in 2 of their sons. The mothers of the 2 affected patients died due to cardiac causes in their 40s (1 died suddenly). One of the carriers fulfilled diagnostic criteria for isolated left ventricular noncompaction. Our data associated the R349L and R190W mutations in LMNA with severe forms of familial DC. LMNA mutations should be considered in the genetic screening of patients with familial DC without conduction system disease. Isolated left ventricular noncompaction may be part of the phenotypic spectrum of the laminopathies.