[Primary amyloidosis associated to severe factor X deficiency]. / Amiloidosis primaria (AL) asociada a déficit severo de factor X.

Amyloidosis is a systemic disease characterized by generalized deposition of beta-organized proteic fibrillar material with green birefringence under polarized light, in different tissues and organs, the most frequent kidney, liver and heart, with important clinical repercussion. Primary or AL amyloidosis is the most common subtype of amyloidosis (1), confirmed by biopsy-proved amyloid deposition in abdominal fat pad, rectum, kidney or liver, if necessary, in which fragments of monoclonal light chains are deposited. Cases with factor X (Stuart factor) of coagulation deficiency associated are described, due to adsorption of this factor to amyloid fibrills. Normally, evolution is fatal, with only few months of survival. We report a case of primary amyloidosis with nephrotic syndrome, severe factor X deficiency (without bleeding complications), possible heart affection and short-term good response to chemotherapic treatment.

[Leiomyoma of the bladder. Analysis of a collection of 90 cases]. / Leiomioma de vejiga. Análisis de agregación de 90 casos.

INTRODUCTION: Bladder leiomyomas (BL) are rare. Most publications regarding these tumours are reports of isolated cases; therefore they don't allow an evaluation of diagnostic and treatment procedures. MATERIAL & METHODS: We preformed a pooled analysis of 90 cases of BL reported in the literature. RESULTS: Mean age was 45.3 (19 to 85 years), 68 (75.6%) were women. Filling symptoms were the most frequently reported (50%), followed by voiding symptoms (24.4%). Twenty four patients (26.7%) were asymptomatic. Tumours were endoluminal in 46 patients (51.1%), intramural in 27 (30%) and extravesical in 15 (16.7%). A laparotomy was performed in 56 patients (62.2%), with enucleation in 29 (32.2%), partial cystectomy in 25 (27.8%) and total cystectomy in 2 (2.2%). A transurethral resection was preformed in 27 (30%) and a transvaginal resection in 5 (5.6%). Two patients underwent conservative treatment. In 3 cases there were reports of recurrence and one patient got a vesicovaginal fistula. CONCLUSIONS: Although BL are rare, when evaluating bladder tumours, imaging techniques can make suspect of this neoplasm. Surgical treatment of these tumours has a very high success rate. Usually an enucleation or a transurethral resection is sufficient to render the patient tumour free, avoiding a more iatrogenic surgery.

Leiomioma de vejiga. Análisis de agregación de 90 casos / Bladder leiomyoma. A pooled analysis of 90 cases

INTRODUCCIÓN: Los leiomiomas de vejiga (LV) son tumores raros. La mayoría de las publicaciones relativas a estos tumores describen casos aislados, no permitiendo evaluar estrategias diagnósticas y terapéuticas. MATERIAL Y MÉTODO: Realizamos un análisis de agregación de 90 casos de LV descritos en la literatura internacional. RESULTADOS: La edad media al diagnóstico fue de 45,3 años (19-85 años), 68 (75,6 por ciento) eran mujeres. Los síntomas más frecuentes eran de almacenamiento (50 por ciento) seguidos de los de vaciado (24,4 por ciento). Veinticuatro pacientes (26,7 por ciento) estaban asintomáticos. Cuarenta y seis tumores (51,1 por ciento) tenían crecimiento endoluminal, 27 (30 por ciento) eran intramurales y 15 (16,7 por ciento) extravesicales. A 56 pacientes (62,2 por ciento) se les realizó una laparotomía, con enucleación en 29 (32,2 por ciento), cistectomía parcial en 25 (27,8 por ciento) y cistectomía total en 2 (2,2 por ciento). Veintisiete (30 por ciento) fueron sometidos a resección transuretral y 5 pacientes (5,6 por ciento) a una enucleación transvaginal. Dos pacientes no fueron sometidos a ningún tratamiento. Fueron descritas 3 recidivas y una fístula vesicovaginal como única complicación. CONCLUSIONES: Aunque el LV sea un tumor raro, en el estudio de una neoformación vesical, los estudios de imagen, pueden hacer sospechar este diagnóstico. El tratamiento quirúrgico tiene una alta tasa de éxito. En la mayoría de los casos, la resección transuretral o la enucleación es suficiente, evitando así una cirugía más iatrogénica (AU)

Waldenström macroglobulinaemia: presenting features and outcome in a series with 217 cases.

In this report we analyse the presenting features of a series of patients diagnosed with Waldenström macroglobulinaemia (WM) in Spain over the last 10 years. Criteria for diagnosis required a serum monoclonal IgM protein > or = 30 g/l and > 20% bone marrow lymphocytes. Two hundred and seventeen patients were included in the study, with a median age of 69 years and male/female ratio of 2:1. The most common symptoms at diagnosis were anaemia (38%), hyperviscosity (31%), B symptoms (23%), bleeding (23%) and neurological symptoms (22%). Sixty-one patients (27%) were asymptomatic at diagnosis and, to date, 32 of them have not received chemotherapy. Variables predicting a shorter survival free of therapy were haemoglobin < 12.5 g/dl and high beta2microglobulin (beta2M). The 83% of patients who did receive treatment were distributed as follows: chlorambucil/prednisone (43%), intermittent chlorambucil (11%), continuous chlorambucil (26%), cyclophosphamide/vincristine/prednisone (COP, 13.5%) and other (6.5%). Response to therapy was complete in 2%, partial in 48% and minor in 10%. Finally, 28% and 13% of patients presented stable and progressive disease, respectively, which was more common among patients treated with COP. Progression-free survival was 43% at 5 years, with three independent predictors for shorter progression-free survival (PFS): COP treatment, age > 65 and B symptoms at diagnosis. The 10-year projected overall survival (OS) was 55%. The two most frequent causes of death were development of second malignancies (31%), or infections (19%). The two main variables predicting a poor OS were hyperviscosity and high beta2M. In summary, this study favours the use of chlorambucil-based therapy as the standard treatment for WM, and describes a subset of patients who should be considered as suffering a smouldering form and who therefore do not require treatment for a long period of time.

Unilateral absence of the clavicle with rapidly progressive scoliosis in an 8-year-old.

We report a possible association of unilateral absence of a clavicle with rapidly progressive scoliosis. Cleidocranial dysplasia (CCD) is an autosomal dominant disorder that is characterized by defective bone formation. The clavicle, pelvis, and skull are the most commonly affected bones. A review of the literature found two cases of CCD and scoliosis. Unilateral absence of the clavicle in association with rapidly progressing scoliosis has not been previously reported. Review of the patient's charts and radiographs from age 8 to 17 years, 5 years after treatment with posterior spinal instrumentation is presented, together with a review of the literature. Our patient initially presented without any spinal deformity until age 9, when she had a 10 degree curve between C-8 and L-T. Eighteen months later, the curve progressed to 52 degrees, Risser 1. Associated anomalies include posterior-element hypoplasia of the thoracic spine and posterior fusion of C4-6. She was treated with posterior spinal instrumentation from C-8 to L-4 without complications. Correction was maintained at 5-year follow-up. There may be an association between unilateral absence of the clavicle and rapid progression of scoliosis in immature children. We hypothesize that the asymmetrical influence of the unilateral absent clavicle may have played a causative role in her rapidly progressive scoliosis.

Mild gait abnormality and leg discomfort in a child secondary to extradural ganglioneuroma.

Ganglioneuromas are benign and slow-growing tumors that most commonly originate from the sympathetic trunk. Ganglioneuromas often decrease in size and rarely require reoperation. Changes in gait or the onset of limb pain without a discernible local cause are indications for investigation of patients for possible intraspinal pathology. We report the case of a 5-year-old boy who presented with seemingly static symptoms, while the slow-growing tumor had enveloped nerve roots and caused bone destruction of the vertebrae.

Quantifying changes in standing body segment alignment following spinal instrumentation and fusion in idiopathic scoliosis using an optoelectronic measurement system.

STUDY DESIGN: Longitudinal case studies before and after posterior spinal instrumentation and fusion (PSIF) in idiopathic scoliosis (IS). OBJECTIVES: To quantitate the changes in body segment alignment following PSIF using standard radiographic techniques and an optoelectronic measurement system. SUMMARY OF BACKGROUND DATA: Evaluation of surgical correction following PSIF is traditionally performed radiographically. Radiographic film cannot reliably document transverse and coronal plane pelvic, torso, and shoulder orientation resulting from the global effect of vertebral malalignment. METHODS: Thirty-three subjects with IS were evaluated radiographically and with an optoelectronic measurement system before and 13 months after PSIF. All subjects had a primary right thoracic curve pattern. Thirteen subjects without scoliosis were evaluated as controls. Symmetry measures and transverse and frontal plane orientation relationships were measured and compared preop, postop, and with controls. RESULTS: The major curve decreased from 60 degrees to 24 degrees after surgery. The magnitude of C7 decompensation from the sacrum decreased following PSIF. Control subjects demonstrated neutral coronal and transverse plane alignment. Preoperatively, patients had an elevated and protracted right shoulder. Postoperative data showed correction in both the coronal and transverse planes. Ten out of 33 subjects were within 5 degrees of neutral shoulder protraction before surgery. Twenty-six out of 33 were within 5 degrees of neutral following surgery. CONCLUSIONS: Optoelectronic measurement of body segment alignment may be a useful noninvasive technique in the evaluation of scoliotic deformity. This is a new method of evaluating the global effect of vertebral malalignment on body segment alignment and can be used to quantify changes following PSIF.

Kinematic compensations as children reciprocally ascend and descend stairs with unilateral and bilateral solid AFOs.

The aim of this study was to identify the compensations made when a child with normal motor control ascends and descends stairs while wearing a solid AFO. Ten healthy children were asked to ascend and descend stairs with shoes, right and bilateral AFOs. Repeated measures ANOVA identified differences in selected kinematic parameters. Peak-to-peak excursion of pelvic rotation, pelvic obliquity, and hip ab/adduction increased with AFO use (P<0.05). Mean anterior pelvic tilt increased with AFO use (P<0.05). Compensations at the trunk and the pelvis facilitated limb advancement and clearance. This information may be helpful in developing strategies for training patients with motor planning difficulties.

Congenital pseudarthrosis of the tibia: a retrospective review.

Treatment of congenital pseudarthrosis of the tibia has been notoriously very difficult. This retrospective review of 36 cases (33 patients) seen at the Shriners Hospital (Springfield, Massachusetts Unit), from 1927 to the present evaluates the different forms of treatment and their long-term results. Adequate information was obtained from 30 patients (33 cases) to include them in this study. Twenty-nine patients (32 cases) underwent 154 surgical procedures, of which 138 were to achieve union of the pseudarthrosis (4.3 per case), and one parent could not recall how many surgeries were performed on her son. Sixteen surgeries were performed to correct leg-length discrepancy. Four cases healed with bracing alone. Of the 30 patients (33 cases), 14 patients (15 cases) required amputation. These patients had undergone multiple attempts at union (average, 4.7 procedures). Patients who went on to union averaged 2.8 surgical procedures. Even with newer techniques available to the trained pediatric orthopaedist, treatment of congenital pseudarthrosis of the tibia remains an elusive problem.