Newborn screening for Fabry disease in the north-west of Spain.

Fabry disease is an X-linked lysosomal storage disorder caused by the impairment of α-galactosidase A. Enzyme replacement therapy is available to treat patients, who often experience delayed diagnosis. A newborn screening for Fabry disease was performed to study the prevalence of the pathology and to evaluate the possibility to implement the test in systematic screenings. We collected 14,600 dried blood spot samples (7575 males and 7025 females) and carried out a diagnostic study by fluorometric measurement of α-galactosidase A enzymatic activity and GLA gene sequencing. We detected one patient with a mutation in GLA associated with classical Fabry Disease (M290I), ten subjects carrying genetic variants of uncertain diagnosis (S126G, R118C, A143T), and a girl with the non-characterized variant F18Y, which was not previously described. Additional 25 samples presented nucleotide substitutions described as polymorphisms (D313Y, rs2071225, and rs2071397). The estimated prevalence for Fabry disease in north-western Spanish males is of 0.013%. CONCLUSION: These results confirm that the prevalence of Fabry disease is underestimated and systematic screening is feasible; however, further characterization of variants of uncertain clinical significance is necessary to establish protocols of patients' management. What is Known: • Fabry disease is a rare disease of delayed diagnosis, whose prevalence is underestimated. However, early diagnosis is important for better efficiency of the current available treatment. What is New: • This newborn screening for Fabry disease performed on Spanish population reveals a prevalence of genetic alterations in GLA of 0.1% in males (0.013% with classic Fabry disease) and also characterizes these modifications in order to discriminate between pathogenic mutations and genetic variants of unknown significance.

Transfusion of post-operative shed blood: laboratory characteristics and clinical utility.

Increased awareness of the potential hazards of allogenic blood transfusion, such as incompatibility reactions, metabolic and immunologic disorders, or transmission of viral diseases, has led to an emphasis on allogeneic blood alternatives. For orthopaedic surgery, several autologous transfusion modalities have emerged as alternatives to allogeneic blood transfusion, avoiding its immunomodulatory effects. Among them, transfusion or return of post-operative salvaged shed blood has become popular in major orthopaedic procedures. However, although the effectiveness of this blood-saving method is well documented, several authors have questioned its safety and recommended the use of washed blood. Therefore, this review analyses the haematologic characteristics of unwashed filtered shed blood, including metabolic status and survival of red blood cells, the components of the haemostatic system, the content of fat particles, bacterial and tumour cells and the possibility of their removal, the content of inflammatory mediators, and the effects on the patient's immune system. From data reviewed in this paper, it can be concluded that post-operative salvage of blood seems to be an excellent source of functional and viable red cells without many of the transfusion-related risks and with some immuno-stimulatory effects. In addition, from our experience, post-operative re-infusion of unwashed shed blood after major spine procedures has proved to reduce post-operative homologous transfusion requirements and to complement pre-operative autologous blood donation, without any clinically relevant complication.

Acute phase response in patients undergoing lumbar spinal surgery: modulation by perioperative treatment with naproxen and famotidine.

In orthopaedic surgery, perioperative administration of non-steroidal anti-inflammatory drugs has been shown to reduce postoperative pain and analgesic consumption. In addition, preoperative administration of ibuprofen has proved to reduce interleukin-6 (IL-6) release, while that of ranitidine reduced postoperative IL-6-induced C-reactive protein synthesis in patients undergoing abdominal surgery. However, it has not been established whether the preoperative administration of both types of drugs may reduced the postoperative inflammatory reaction after instrumented spinal surgery. Accordingly, our objective was to investigate the effects of preoperative treatment with naproxen plus famotidine on the postoperative systemic inflammatory reaction in patients undergoing instrumented lumbar spinal surgery. Forty consecutive patients scheduled for elective instrumented spinal fusion were alternately assigned to receive either naproxen (500 mg/day, p.o.) plus famotidine (40 mg/day, p.o.) for 7 days before operation, or no adjuvant treatment. Haematological parameters, acute phase proteins, complement fractions, immunoglobulins and cytokines were determined 7 days and immediately before surgery, and on days 0, 1, 2 and 7 after surgery. Haematological parameters, clinical data, duration of surgery, blood loss, perioperative blood transfusion and postoperative complications were similar in the two groups, although pretreated patients showed lower increases in body temperature and required less analgesic medication. Compared with preoperative levels, IL-6 levels were significantly increased postoperatively in all patients with no differences between groups. C-reactive protein, alpha(1)-acid-glycoprotein and haptoglobin levels were also significantly increased postoperatively in all patients; however, they were significantly lower in pretreated patients. In conclusion, perioperative treatment with naproxen plus famotidine was well tolerated and reduced the acute phase response after instrumented spinal surgery. However, further research is needed to determine the best dose and timing of preoperative treatment administration, and to correlate these changes with long-term clinical results.

Autotransfusión en cirugía de columna lumbar / Autologous transfusion in surgery of the lumbar spine

Objetivos. En este estudio se pretendía evaluar la efectividad de la autotransfusión, en sus modalidades preoperatoria (donación preoperatoria de sangre autóloga, DPSA) y postoperatoria (recuperación/reinfusión de la sangre de los drenajes postoperatorios, ATP), para reducir la exposición a transfusión de sangre homóloga (TSH), y las complicaciones derivadas de la misma, en pacientes de cirugía de columna lumbar. Pacientes y métodos: Se han incluido en el estudio 122 pacientes consecutivos sometidos a artrodesis de columna lumbar o lumbosacra instrumentada (Allospine, Sulzer, CH) que fueron divididos en 4 grupos de acuerdo con la estrategia transfusional empleada: Grupo A (Control, sólo sangre homóloga), Grupo B (ATP), Grupo C (DPSA) y Grupo D (DPSA+ATP). La recuperación y reinfusión de la sangre drenada durante las primeras 6 horas del postoperatorio se realizó con el sistema ConstaVac CBCII (Stryker, USA). Se ha valorado la efectividad ( por ciento de pacientes que evitan la TSH) y el rendimiento ( por ciento de unidades de sangre autóloga reinfundidas) del programa de autotransfusión y la incidencia de complicaciones postoperatorias. Resultados: Los pacientes del grupo A (control, n = 37) recibieron exclusivamente sangre homóloga (1,92 ñ 0,2 U/pte), mientras que en los pacientes del grupo B (ATP, n = 29) la reinfusión de 405 ñ 29 ml/pte (19 U, 74 por ciento del sangrado postoperatorio total) redujo en un 60 por ciento las necesidades de TSH postoperatorias (0,28 vs 0,67 U/pte) y en un 20 por ciento las necesidades de TSH totales (1,56 vs 1,92 U/pte), sin que hubiese diferencias con respecto al grupo control en tasa media de transfusión (2,25 ñ 0,19 U/pte). Cinco pacientes de Grupo A y 4 del Grupo B no recibieron TSH. En los 2 grupos siguientes, se realizó una DPSA a corto plazo de 2 U/pte (7 y 1 días antes de la intervención), que se utilizó sola (Grupo C, n = 24) o en combinación con ATP (Grupo D, n = 32).En el grupo C los requerimientos transfusionales fueron de 1,79 ñ 0,1 U/pte, utilizándose el 83 por ciento de la DPSA y sólo 2 pacientes recibieron TSH (Efectividad 93 por ciento).El grupo D presentó un mayor sangrado y una menor ratio varones/mujeres, por lo que, además de utilizarse 61 U de DPSA (Rendimiento 95 por ciento) y 24 U de ATP (58 por ciento del sangrado postoperatorio), fueron necesarias 9 U de TSH en 7 pacientes (Efectividad 78 por ciento), para una tasa media de transfusión de 3,03 ñ 0,15 U/pte (p < 0,01). La efectividad global del programa de donación preoperatoria (grupos C y D) fue del 84 por ciento y el porcentaje de unidades no utilizadas del 11 por ciento (Rendimiento 89 por ciento). No hubo diferencias significativas en los niveles de hemoglobina pre y postoperatorios o al alta, en la tasa de incidencia de complicaciones infecciosas ni en la duración de la estancia hospitalaria entre los distintos grupos. Tampoco se registraron efectos adversos clínicamente relevantes durante la realización de la DPSA o la ATP. Conclusiones: La DPSA a corto plazo se ha mostrado como un procedimiento efectivo y seguro para reducir las TSH en pacientes sometidos a cirugía de columna lumbar instrumentada, mientras que la asociación de ATP a la DPSA podría ser útil en aquellos casos en los que no pueden donarse el número de unidades requeridas o se espera un sangrado postoperatorio abundante (AU)

[Large myxoma of the right atrium]. / Mixoma de gran tamaño en la aurícula derecha.

We describe the case of a patient in whom two-dimensional echocardiography, performed due to dissociated cholestasis and jugular ingurgitation, demonstrated a huge mass in the right atrium which prolapsed in the right ventricle. Intraoperative transesophageal echocardiography was performed to further assess the dimension and characteristics of the mass and to discard the involvement of associated structures. The patient underwent a cardiopulmonary bypass surgery and the mass (12 * 5 cm) was removed without complications. Histologic examination confirmed the diagnosis of myxoma. This case is of interest because of the size of the mass, and is centered in the diagnosis following clinical suspicion due to the pattern of dissociated cholestasis and jugular ingurgitation leading to surgery to prevent the potential embolic complications.

Postoperative blood salvage and reinfusion in spinal surgery: blood quality, effectiveness and impact on patient blood parameters.

Although reinfusion of salvaged shed blood has become popular in major orthopaedic procedures, this blood saving technique is still controversial. In an effort to assess the functional and metabolic status of shed blood erythrocytes and the impact of postoperative shed blood reinfusion on allogenic blood requirements and patient's blood parameters, analyses of perioperative blood samples were performed in 28 consecutive orthopaedic patients undergoing spinal fusion, in which postoperative shed blood was collected and reinfused with the ConstaVac CBC II device. In comparison with a previous series of 31 patients, this procedure reduced allogenic blood requirements by almost 30% (P < 0.05), without any increase in postoperative complications. Postoperative shed blood presented lower haematological values and higher plasma-free haemoglobin (PFHB) levels than preoperative blood, without any disturbance in morphology, median corpuscular fragility (MCF) or erythrocyte adenosine triphosphate (ATP) and diphosphoglycerate (DPG) content. Serum concentrations of enzymes--glutamate-oxalacetate aminotransferase (GOT), glutamate-piruvate aminotransferase (GPT), creatine kinase (CK), lactate dehydrogenase (LDH)--and inflammatory cytokines (IL-1beta, IL-6) were elevated in shed blood. After reinfusion, there was no alteration in coagulation parameters or cytokine levels. Serum levels of some enzymes increased at the end of surgery and remained elevated at postoperative day 2 (CK) or 7 (GOT, LDH), with a higher increase if postoperative autotransfusion was used as a blood saving method. Therefore, caution should be taken when these serum enzyme levels are used for diagnosis. In conclusion, salvaged shed blood in orthopaedic procedures of the spine seems to be an excellent source of red cells which are not significantly damaged, keeping a normal functional and metabolic status, and reduces allogenic blood requirements without significant side effects.

Left ventricular outflow tract obstruction with mitral mechanical prosthesis.

Left ventricular outflow tract obstruction after mitral valve replacement may occur when the native mitral apparatus is preserved intact. Although it has usually been reported using bioprostheses, we present one case using a low-profile mechanical prosthesis. The reduction of left ventricular dimensions and valvular redundancy contributed to this complication. We obtained definitive relief of left ventricular outflow tract obstruction by transaortic exposure and partial resection of the obstructing tissue with the help of video-assisted cardioscopy.

Intraoperative control by somatosensory evoked potentials in the treatment of cervical myeloradiculopathy. Results in 210 cases.

Somatosensory evoked potentials (SEPs) were used for continuous monitoring of 210 patients during anterior surgery for cervical myeloradiculopathy, to test how effectively they help avoid irreversible neurological damage during surgery. The pathologies differed in severity and were treated by diskectomy or by extended corporectomy using the Senegas technique. Intraoperative SEP changes were recorded in 84 patients (40%); in 13 (6.2%) of these, changes in SEP amplitude and latency were caused by mechanical stress. SEPs revealed transient episodes of regional ischaemia or neurophysiological anomalies during anaesthesia (mainly hypotension) in 27 patients (12.8%). The traces detected incipient and potentially dangerous mechanical pressure on, or metabolic anomalies of, the spinal cord during manipulation and placement procedures of spinal fixation devices. They were particularly sensitive indicators of ischaemia; one of the most common causes of irreversible injury. The traces of 44 patients (21.0%) improved markedly during surgery. There were no false-negatives in this series and, thanks to the fact that SEPs gave immediate warnings of incipient ischaemia to the surgical team, we had no case of irreversible medullary or nerve-root deficit.

[Cardiac rhabdomyoma and tuberous sclerosis. Survival after the surgical resection of the cardiac tumor]. / Rabdomioma cardíaco y esclerosis tuberosa. Supervivencia tras la resección quirúrgica del tumor cardíaco.

A 3-month-old boy with tuberous sclerosis was diagnosed of biventricular heart tumor by means of 2D-echocardiogram. Three masses of tumor were excised from the right ventricle with the aid of cardiopulmonary bypass. Pathologic examination disclosed a cardiac rhabdomyoma. The boy is symptoms-free after 5 years of the operation. An echocardiogram taken at this time showed no-evidence of heart tumor. Pathology, diagnostic methods and surgical indications are commented. A review of selected surgically resected cases is also presented.

Combined percutaneous mitral and aortic balloon valvuloplasty.

Between August 1987 and November 1988, combined mitral and aortic balloon valvuloplasty was performed in 10 patients (mean age 42 +/- 9 years), all of whom had symptomatic mitral and aortic stenosis. The procedure was performed using a transarterial approach with a multiballoon catheter and an exteriorized intracardiac long guidewire circuit. The procedure could be considered successful in 9 patients where significant increases in the mean mitral (0.97 +/- 0.19 to 1.80 +/- 0.26 cm2) and aortic (0.63 +/- 0.18 to 1.15 +/- 0.32 cm2) areas were achieved. Severe mitral regurgitation that required surgery developed in 1 patient in the following 24 hours. Femoral vascular surgery was necessary in 1 patient. Mid-term follow-up was available in 8 patients for a period averaging 8 +/- 3 months. The 9 patients in whom the procedure was successful showed persistent clinical improvement in functional class, Doppler echocardiography showed 2 cases of aortic restenosis and none of mitral restenosis. Combined mitral and aortic balloon valvuloplasty could be a valid alternative treatment in selected patients with both mitral and aortic rheumatic stenosis. Further experience and long-term hemodynamic follow-up are necessary to define the role of this mode of treatment.

Intraoperative balloon valvuloplasty in pulmonary valve stenosis.

Balloon valvuloplasty was used in the operating room on 7 patients to visually assess the valvular changes induced by inflation of a balloon catheter. All patients had typical pulmonary valve stenosis and an associated cardiac condition which necessitated surgery. Of 23 fused commissures present, 21 were successfully opened with a single balloon inflation. In 2 patients, damage to the leaflets was observed. In 1 patient there was partial detachment and in the other a small tear was noted at the margin of one leaflet. These intraoperative results may be similar to the results obtained with percutaneous balloon valvuloplasty.

[Aortic valvuloplasty using the transatrial route in aortic valve stenosis]. / Valvuloplastia aórtica utilizando la ruta transatrial en la estenosis valvular aórtica.

We describe a new technique for aortic valvuloplasty in four patients. The balloon catheter was inserted percutaneously from the right femoral vein over a long guidewire introduced into the right femoral vein and advanced transseptally to the left atrium and left ventricle and drawn out of the body through the left femoral artery using an intravascular retriever set. With both ends of the long guidewire under manual control outside the body, the balloon could be easily fixed during inflation. The procedure was easy to perform and caused no complications.