Deformidad de Sprengel / No disponible

La deformidad de Sprengel se caracteriza por la elevación congénita de la escápula. Es lamalformación de la cintura escapular más común. Se produce por la interrupción en el normaldescenso de la escápula durante el período embrionario, de tal manera que ésta permaneceen una posición elevada con respecto al tórax y al cuello.Presentamos un caso clínico de un niño de 4 meses de edad al que, en su revisión delPrograma de Salud Infantil, a la edad de 1 mes, se le detecta una deformidad de Sprengel enel lado izquierdo y se le asocian otras malformaciones, como escoliosis congénita, alteracionesvertebrales, torácicas y renales(AU)

Sprengel’s deformity is characterized by congenital elevation of the scapula. It is themost common congenital malformation of the shoulder girdle. Congenital elevation of thescapula is caused by an interruption in the normal embryonic caudal migration of the scapula,so that it rests in a high position in relation to the thorax and neck.We report the case of 4 month infant, in whom Sprengel’s deformity in the left side wasdetected in the 1 month well child review. It was associated with other malformations suchas congenital scoliosis, renal, thoracic and vertebral abnormalities(AU)

Utilidad de los marcadores tumorales en el diagnóstico de neoplasia asociada a trombosis venosa profunda idiopática / Usefulness of the tumor markers in the diagnose of idiopathic deep venous thrombosis associated cancer

Objetivo: Valorar la utilidad para el diagnóstico de neoplasia de la determinación de un perfil amplio de marcadores tumorales (MT) junto a la evaluación inicial de los pacientes con trombosis venosa profunda (TVP) idiopática. Material y métodos: Estudio prospectivo de 48 pacientes con diagnóstico de TVP idiopática. Se determinó en suero a todos los pacientes: antígeno carcinoembronario, alfa-fetoprotetína, CA 19.9, CA 125, beta2-microglobulina, antígeno de células escamosas, enolasa neuronal específica, antígeno prostático específico en los varones y CA15.3 en las mujeres. Los pacientes fueron evaluados para neoplasia durante el ingreso y seguidos a los 6 y 12 meses. Resultados: La edad media fue de 65 años. En 23 pacientes (48 por ciento) se detectó al menos un marcador elevado. Se diagnosticaron 8 neoplasias (16 por ciento), 4 en el grupo con marcadores elevados y 4 en el grupo con marcadores normales. No apreciamos diferencias significativas en las incidencias de neoplasia entre ambos grupos. Sin embargo, de los 4 casos de neoplasias diagnosticadas en el grupo con marcadores elevados, solo 1 se consideró verdadero positivo puesto que en las otras el marcador elevado no resultó congruente con la neoplasia. Seis neoplasias se diagnosticaron durante el ingreso hospitalario y dos durante el seguimiento. Se obtuvo una sensibilidad del 12 por ciento, una especificidad del 52 por ciento, un valor predictivo positivo del 5 por ciento y un valor predictivo negativo del 75 por ciento. Conclusiones: La incidencia de neoplasia fue similar a la comunicada por otros autores. Encontramos poca sensibilidad y especificidad, y escaso valor predictivo positivo con numerosos falsos positivos. Sin embargo, el valor predictivo del resultado negativo fue del 75 por ciento, con lo que la mayoría de los pacientes con un perfil completo normal de MT y asintomáticos no tuvieron neoplasia al diagnóstico ni durante el tiempo de seguimiento (AU)

[Usefulness of the tumor markers in the diagnosis of idiopathic deep venous thrombosis associated cancer]. / Utilidad de los marcadores tumorales en el diagnóstico de neoplasia asociada a trombosis venosa profunda idiopática.

OBJECTIVE: To evaluate a wide detection of tumor markers practiced during admission for the diagnosis of cancer in patients with idiopathic deep venous thrombosis. MATERIAL AND METHODS: Prospective study including 48 patients with documented DVT who lacked a predisposing cause to DVT. It was determined in serum: carcinoembryonic antigen, alphafetoprotein, CA 19-9, CA 125, beta-2-microglobulin, SCC (squamous cell antigen), NSE (neuron-specific enolase), PSA (prostate-specific antigen) in the males and CA15-3 in the women. The patients were evaluated for cancer during admission and followed up at 6 and 12 months. RESULTS: The age was 65 years. A positive tumor marker at least was detected in 23 patients (48%). A cancer was diagnosed in 8 patients (16%), 4 in the group with elevated tumor markers and 4 in the group with normal tumor markers. We don't find significant differences in cancer incidence between both groups. However, of the 4 cases of cancer diagnosed in the group with elevated markers only 1 was considered true positive since in the others three cases the elevate tumor marker was not appropriated with the cancer diagnosed. Six tumors were diagnosed during admission and two during follow-up period. According to these results was obtained a sensitivity of 12%, a specificity of 52%, a positive predictive value of 5% and a negative predictive value of 75%. CONCLUSIONS: The cancer incidence is similar to previous series. We have found a poor sensitivity, specificity and positive predictive value. However, the negative predictive value was of 75% and the patients who were normals for results of all tumor markers and was asymptomatic during admission hadn't a subsequent cancer diagnosis.

Free and complexed prostate specific antigen in the differentiation of benign prostatic hyperplasia and prostate cancer: studies in serum and plasma samples.

PURPOSE: We prospectively evaluated serum and plasma concentrations of total and free prostate specific antigen (PSA), and PSA complexed to alpha1-antichymotrypsin in 170 patients who underwent biopsy, including 59 with prostate cancer and 111 with benign prostatic hyperplasia. We compared the usefulness of the ratios of free-to-total and complexed-to-total PSA for distinguishing between prostate cancer and benign prostatic hyperplasia, and studied the influence of blood clotting on the ratios. MATERIALS AND METHODS: Blood samples were processed to generate serum and citrated plasma. To calculate complexed-to-total and free-to-total PSA we assayed plasma and serum samples for total and complexed PSA using homemade immunoassays, and total and free PSA using the Immulite assay. The 2 total PSA assays were compared using the Tandem-E PSA assay. Receiver operating characteristics curves were constructed for the total population, and for 2 to 20, 4 to 20, 2 to 10 and 4 to 10 ng./ml. total PSA. RESULTS: In all groups complexed-to-total PSA had higher specificity than free-to-total and total PSA, especially at 90 to 100% sensitivity. Generally citrated plasma samples provided higher specificity than serum samples for all sensitivity values. The best performance for complexed-to-total and free-to-total PSA was obtained in the subset of patients in whom total PSA was 2 to 10 ng./ml. CONCLUSIONS: Our results indicate that the complexed-to-total PSA ratio performed better for classifying disease status than the free-to-total PSA ratio in the whole patient population and in the diagnostic gray zone of 2 to 10 ng./ml. In addition, plasma samples should be used to calculate the complexed-to-total and free-to-total PSA ratio.

[Hereditary angioneuritoc edema with exclusive abdominal manifestation. Report of a case]. / Edema angioneurótico hereditario de manifestación exclusiva abdominal. A propósito de un caso.

A new case of C1 inhibitor deficiency is described, pointing out the relationship between laboratory and radiological findings (increase haemoglobin and hematocrit index, and BUN) and presence of free intraperitoneal fluid (ultrasonography and radiology). In patients with this rate condition undergoing laparotomy because acute appendicitis or other surgical condition suspected, the evidence of massive intraperitoneal effusion should indicate the possibility of C1 inhibitor deficiency.

[Predictive value of the study of cerebro-spinal fluid in neurological diseases. Discriminant analysis of 733 cases]. / Valor predictivo del estudio de líquido cefalorraquídeo en enfermedades neurológicas. Análisis discriminante en 733 casos.

INTRODUCTION: The study of cerebrospinal fluid (CSF) gives very valuable data for the diagnosis of certain neurological disorders. Objective. To discover the discriminative value of different tests and their usefulness in the study of neurological disorders. MATERIAL AND METHODS: Discriminative multivariate analysis was used for the group of parameters obtained from study of CSF and serum in a sample of 733 patients. BO was included, CSF cytobiochemical data and five of the equations used for calculation of the synthesis of intrathecal IgG. RESULTS: The best discriminative function was expressed as the intrathecal IgG with normal BHE. The formula of Tourtellotte was noteworthy for overestimation of the synthesis of intrathecal IgG when the albumin index indicated BHE rupture. Prospective reclassification of the 733 cases showed that these tests are well worthwhile to rule out immunologically mediated disorders (93% of the cases were correctly reclassified); they suggest the diagnosis in multiple sclerosis (66% correctly reclassified) and give very poor reliability when trying to distinguish between inflammatory infectious processes. CONCLUSIONS: In spite of their undoubted use in supporting the clinical diagnosis, the tests used for study of the synthesis of IgG, even complemented by cytobiochemical examination of the CSF, are not in themselves sufficient for use as a discriminative test in the differential diagnosis of neurological processes.

[Intrathecal synthesis of IgG: comparative study of its determination with 5 different equations, in 733 neurologic patients]. / Síntesis intratecal de IgG: estudio comparativo de su evaluación mediante cinco ecuaciones diferentes, en 733 pacientes neurológicos.

In order to find out the degree to which rupture of the blood-brain barrier (BBB) could influence the diagnostic effectiveness of five equations used to determine the intrathecal synthesis of IgG, a comparative study was performed with results from 733 patients with different neurological processes either related to an immune response (PNI) or not (PNNI). Rupture of the BBB was determined by a quotient of cerebrospinal fluid (CSF)/serum albumin (COA) higher than that obtained in the control group. When the BBB was retained, there was no clear superiority of one formula over another, but an altered BBB was the conditioning factor in the divergence. The extended Index was the least influenced by the rupture of the BBB, while Tourtellotte's equation was the most affected. In agreement with the clinical information data, the IgG Index was the most sensitive equation, while the extended Index was the most specific.

Changes in total serum IgE concentrations after splenectomy.

In addition to allergic diseases, there are other disorders that can be accompanied by increased levels of total serum IgE. It has been demonstrated that splenectomy can alter the serum concentrations of other immunoglobulins. The aim of this study was to examine the concentrations of total IgE in the serum of patients splenectomized as a result of abdominal trauma but with no associated disease. Our results show that the average concentrations in the serum of patients were significantly higher that in the control group. Furthermore, in a large number of patients, the concentrations were above the normal limit set for the nonatopic Spanish population. These results suggest that splenectomy can alter the regulation of IgE concentrations. Since total IgE is usually determined for diagnostic purposes, it is useful to be aware of this anomaly when dealing with splenectomized patients in order to interpret correctly the laboratory analyses.

Usefulness of carcinoembryonic antigen determination in bronchoalveolar lavage fluid. A comparative study among patients with peripheral lung cancer, pneumonia, and healthy individuals.

We compared carcinoembryonic antigen (CEA) levels in bronchoalveolar lavage (BAL) fluid and serum of patients with lung cancer, pneumonia, and healthy individuals to determine the usefulness of CEA in diagnosing lung cancer not visible endoscopically. Cancer patients had CEA lavage fluid levels (4,650 +/- 1,565 ng/mg of albumin) significantly higher than pneumonia patients (755 +/- 346 ng/mg) or healthy individuals, smokers (252 +/- 48 ng/ml), and non-smokers (175 +/- 6 ng/mg). In serum, CEA assay cannot discern between cancer (35 +/- 13 ng/ml) and pneumonia (4.6 +/- 1.4 ng/ml) (p = 0.06). Using 1,000 ng/mg of albumin as the cutting point in BAL fluid, sensitivity and specificity were 77 percent and 94 percent, respectively. In serum, 5 ng/ml provided a sensitivity of 55 percent and specificity of 91 percent. Positive and negative predictive values were 77 percent and 94 percent in BAL, respectively, and 62 percent and 89 percent in serum, respectively. Using a combination of serum and BAL fluid CEA levels, the sensitivity and specificity were 88 percent and positive and negative predictive values were 66 percent and 96 percent, respectively. When used in combination with serum levels of CEA or transbronchial biopsy, the diagnostic yield increased up to 88 percent. Thus, although CEA determination in BAL fluid improves diagnostic yield, it should not be used as the only diagnostic procedure.

[The presence of oligoclonal bands in the cerebrospinal fluid in various neurologic diseases]. / Aparición de bandas oligoclonales en LCR de diferentes enfermedades neurológicas.

The polyacrylamide gel electrophoresis of spinal fluid from 488 patients suffering neurological diseases and from a control group are reviewed. One hundred and eleven cases (22.7%) showed oligoclonal bands (OB). The highest percentage of OB appeared in the group of patients with definite multiple sclerosis (84%), followed by those with probable multiple sclerosis (46%) and inflammatory infectious diseases (43%); the group of patients with a possible multiple sclerosis (7%), vascular malignancies (11%) and other diseases (4%) showed a lower incidence of OBs. No OBs were found in groups of patients with degenerative diseases, dementia or the control group. These results confirm the great usefulness of this test to support the diagnosis of multiple sclerosis, although it also shows that it is not a specific test so it should always be evaluated within a clinical context.