[Bethlem myopathy: when the phenotype is misleading]. / Miopatía de Bethlem: cuando el fenotipo confunde.

TITLE: Miopatía de Bethlem: cuando el fenotipo confunde.

Miositis necrosante autoinmune: a propósito de un caso / Autoimmune necrotising myopathy: A case report

No disponible

4Kscore Test, Prostate Cancer Prevention Trial-Risk Calculator y European Research Screening Prostate-Risk Calculator en la predicción del cáncer de próstata de alto grado; estudio preliminar / A Preliminary Study of the Ability of the 4Kscore test, the Prostate Cancer Prevention Trial-Risk Calculator and the European Research Screening Prostate-Risk Calculator for Predicting High-Grade Prostate Canc

Introducción: Frente al sobrediagnóstico y al sobretratamiento en cáncer de próstata (CaP) se establecen estrategias terapéuticas como la vigilancia activa o la terapia focal, o métodos para precisar el diagnóstico del CaP de alto grado (CaP-AG), Gleason ≥ 7, como la resonancia magnética multiparamétrica o nuevos marcadores como el 4Kscore Test (4KsT). Es nuestro propósito testar mediante un estudio piloto la capacidad del 4KsT como identificador de CaP-AG (suma de Gleason ≥ 7) en biopsia de próstata (Bx) y compararlo con otros modelos pronósticos multivariantes disponibles, como el Prostate Cancer Prevention Trial-Risk Calculator 2.0 (PCPTRC 2.0) y elEuropean Research Screening Prostate Cancer-Risk Calculator 4 (ERSPC-RC 4). Material y métodos: Cincuenta y un pacientes sometidos a BxP según práctica clínica habitual, con un mínimo de 10 cilindros. Diagnóstico de CaP-AG consensuado por 4 uropatólogos. Comparación de las predicciones ofrecidas por los diferentes modelos mediante prueba U Mann-Whitney, áreas bajo la curva ROC (AUC) (test de DeLong), funciones de densidad de probabilidad, diagramas de caja y curvas de utilidad clínica (CUC). Resultados: Un 43% presentaron CaP y un 23,5% CaP-AG. Las medianas de probabilidad de 4KsT, PCPTRC 2.0 y ERSPC-RC 4 fueron significativamente diferentes entre los pacientes con CaP-AG y no CaP-AG (p ≤ 0,022), siendo más diferenciadas en el caso de 4KsT (mediana en CaP-AG: 51,5% [percentil 25-75: 25-80,5%], frente a 16% [P 25-75: 8-26,5%] en no CaP-AG [p = 0,002]). Todos los modelos mostraron AUC por encima de 0,7 sin diferencias significativas entre ninguno de ellos y 4KsT (p ≥ 0,20). Las funciones de densidad de probabilidad y diagramas de caja muestran una buena capacidad discriminativa, especialmente en los modelos de ERSPC-RC 4 y 4KsT. Las CUC muestran como un punto de corte del 9% de 4KsT identifica a todos los CaP-AG y permite un ahorro del 22% de biopsias, similar a lo que ocurre con los modelos de ERSPC-RC 4 y un punto de corte del 3%. Conclusiones: Los modelos predictivos evaluados ofrecen una buena capacidad de discriminación del CaP-AG en Bx. 4KsT es un buen modelo clasificatorio en su conjunto, seguido de ERSPC-RC 4 y PCPTRC 2.0. Las CUC permiten sugerir puntos de corte de decisión clínica: 9% para 4KsT y 3% en ERSPC-RC 4. Este estudio preliminar debe ser interpretado con cautela por su limitado tamaño muestral

Introduction: To prevent the overdiagnosis and overtreatment of prostate cancer (PC), therapeutic strategies have been established such as active surveillance and focal therapy, as well as methods for clarifying the diagnosis of high-grade prostate cancer (HGPC) (defined as a Gleason score ≥7), such as multiparametric magnetic resonance imaging and new markers such as the 4Kscore test (4 KsT). By means of a pilot study, we aim to test the ability of the 4 KsT to identify HGPC in prostate biopsies (Bx) and compare the test with other multivariate prognostic models such as the Prostate Cancer Prevention Trial Risk Calculator 2.0 (PCPTRC 2.0) and the European Research Screening Prostate Cancer Risk Calculator 4 (ERSPC-RC 4). Material and methods: Fifty-one patients underwent a prostate Bx according to standard clinical practice, with a minimum of 10 cores. The diagnosis of HGPC was agreed upon by 4 uropathologists. We compared the predictions from the various models by using the Mann-Whitney U test, area under the ROC curve (AUC) (DeLong test), probability density function (PDF), box plots and clinical utility curves. Results: Forty-three percent of the patients had PC, and 23.5% had HGPC. The medians of probability for the 4 KsT, PCPTRC 2.0 and ERSPC-RC 4 were significantly different between the patients with HGPC and those without HGPC (p≤.022) and were more differentiated in the case of 4 KsT (51.5% for HGPC [25-5 percentile: 25-80.5%] vs. 16% [P 25-75: 8-26.5%] for non-HGPC; p=.002). All models presented AUCs above 0.7, with no significant differences between any of them and 4 KsT (p≥.20). The PDF and box plots showed good discriminative ability, especially in the ERSPC-RC 4 and 4 KsT models. The utility curves showed how a cutoff of 9% for 4 KsT identified all cases of HGPC and provided a 22% savings in biopsies, which is similar to what occurs with the ERSPC-RC 4 models and a cutoff of 3%. Conclusions: The assessed predictive models offer good discriminative ability for HGPCs in Bx. The 4 KsT is a good classification model as a whole, followed by ERSPC-RC 4 and PCPTRC 2.0. The clinical utility curves help suggest cutoff points for clinical decisions: 9% for 4 KsT and 3% for ERSPC-RC 4. This preliminary study should be interpreted with caution due to its limited sample size

A Preliminary Study of the Ability of the 4Kscore test, the Prostate Cancer Prevention Trial-Risk Calculator and the European Research Screening Prostate-Risk Calculator for Predicting High-Grade Prostate Cancer.

INTRODUCTION: To prevent the overdiagnosis and overtreatment of prostate cancer (PC), therapeutic strategies have been established such as active surveillance and focal therapy, as well as methods for clarifying the diagnosis of high-grade prostate cancer (HGPC) (defined as a Gleason score ≥7), such as multiparametric magnetic resonance imaging and new markers such as the 4Kscore test (4KsT). By means of a pilot study, we aim to test the ability of the 4KsT to identify HGPC in prostate biopsies (Bx) and compare the test with other multivariate prognostic models such as the Prostate Cancer Prevention Trial Risk Calculator 2.0 (PCPTRC 2.0) and the European Research Screening Prostate Cancer Risk Calculator 4 (ERSPC-RC 4). MATERIAL AND METHODS: Fifty-one patients underwent a prostate Bx according to standard clinical practice, with a minimum of 10 cores. The diagnosis of HGPC was agreed upon by 4 uropathologists. We compared the predictions from the various models by using the Mann-Whitney U test, area under the ROC curve (AUC) (DeLong test), probability density function (PDF), box plots and clinical utility curves. RESULTS: Forty-three percent of the patients had PC, and 23.5% had HGPC. The medians of probability for the 4KsT, PCPTRC 2.0 and ERSPC-RC 4 were significantly different between the patients with HGPC and those without HGPC (p≤.022) and were more differentiated in the case of 4KsT (51.5% for HGPC [25-75 percentile: 25-80.5%] vs. 16% [P 25-75: 8-26.5%] for non-HGPC; p=.002). All models presented AUCs above 0.7, with no significant differences between any of them and 4KsT (p≥.20). The PDF and box plots showed good discriminative ability, especially in the ERSPC-RC 4 and 4KsT models. The utility curves showed how a cutoff of 9% for 4KsT identified all cases of HGPC and provided a 22% savings in biopsies, which is similar to what occurs with the ERSPC-RC 4 models and a cutoff of 3%. CONCLUSIONS: The assessed predictive models offer good discriminative ability for HGPCs in Bx. The 4KsT is a good classification model as a whole, followed by ERSPC-RC 4 and PCPTRC 2.0. The clinical utility curves help suggest cutoff points for clinical decisions: 9% for 4KsT and 3% for ERSPC-RC 4. This preliminary study should be interpreted with caution due to its limited sample size.

Degeneración tumoral en meningocele no intervenido. Descripción de dos casos / Tumoral degeneration occurring over a non-healing meningocele. Report of two cases

Asistir a pacientes que presentan un meningocele gigante y en edad adulta es una rareza clínica, debido en parte a que es una malformación disráfica con una incidencia baja y a que el índice de supervivencia de los recién nacidos con éstas patologías era menor en épocas anteriores, pese a la benignidad de la malformación. Aportamos a la literatura existente los casos de dos pacientes que nacieron con un disrafismo espinal abierto y que no fueron operados en su momento, llegando a la edad adulta con voluminosos sacos meningocutáneos que tuvieron que ser extirpados, por presentar en el caso de más edad, un absceso con fistulización sin salida de LCR que no mejoró con tratamiento tópico y antibiótico. En el otro caso por sospecha de malignización debido a crecimiento progresivo de la malformación durante el último año, endurecimiento de la piel y dolor. El estudio anatomopatológico de los sacos resecados demostró la existencia de una degeneración carcinomatosa. En nuestros casos y en los pocos casos encontrados en la bibliografía parece que la irritación crónica del LCR y la existencia de células multipotenciales en el saco meningocélico pueden favorecer la malignización de los tejidos que recubren el mismo. La posible malignización descrita en la escasa literatura existente, a la que aportamos nuestros dos casos, sugiere como tratamiento de elección la exéresis quirúrgica de estas lesiones congénitas lo más precozmente posible (AU)

A giant meningocelic sac has not been usually described in adult patients, due to the fact that it shows a low incidence and few newborn have survived to date though the malformation is benign. We report two cases of patients born with the described malformation and who were not operated at that time, so they reached adulthood with bigger sacs. They needed surgery to remove the sacs, for a different reason. The older one had a fistulous abcess but the LCR did not come out, and it did not improved by the application of topic and antibiotic treatment. The other patient showed a progressive growth of the malformation during the last year, skin hardening and pain. The histological study of the dried sacs proved the existence of a carcinomatous degeneration. In the patients we have treated, it seems that a chronic irritation of the LCR and the appearance of multipotent cells in the meningocele may favour the malignancy of the tissues surrounding the sac. This possible malignancy, already described in the bibliography, suggests a prompt elective surgical treatment of the patients with these congenital lesions as soon as possible (AU)

[Tumoral degeneration occurring over a non-healing meningocele. Report of two cases]. / Degeneración tumoral en meningocele no intervenido. Descripción de dos casos.

A giant meningocelic sac has not been usually described in adult patients, due to the fact that it shows a low incidence and few newborn have survived to date though the malformation is benign. We report two cases of patients born with the described malformation and who were not operated at that time, so they reached adulthood with bigger sacs. They needed surgery to remove the sacs, for a different reason. The older one had a fistulous abcess but the LCR did not come out, and it did not improved by the application of topic and antibiotic treatment. The other patient showed a progressive growth of the malformation during the last year, skin hardening and pain. The histological study of the dried sacs proved the existence of a carcinomatous degeneration. In the patients we have treated, it seems that a chronic irritation of the LCR and the appearance of multipotent cells in the meningocele may favour the malignancy of the tissues surrounding the sac. This possible malignancy, already described in the bibliography, suggests a prompt elective surgical treatment of the patients with these congenital lesions as soon as possible.

Enfermedades neuromusculares hereditarias en pediatría. Nuestra experiencia de 14 años / Hereditary neuromuscular diseases in paediatrics. Our experience over the last 14 years

Introducción. Las enfermedades neuromusculares hereditarias son trastornos heterogéneos en edad de inicio, clínica y gravedad. Muchas son graves, discapacitantes y con gran impacto personal, familiar y social, y pueden limitar el pronóstico vital. Se producen continuos avances diagnósticos que exigen una permanente actualización. Pacientes y métodos. Revisión de las enfermedades neuromusculares hereditarias de la base de datos de Neuropediatría del Hospital Miguel Servet de Zaragoza de mayo de 1990 a octubre de 2004. Resultados. De 7.805 pacientes de la base de datos figuran 123 casos (el 1,5% del total) con enfermedades neuromusculares hereditarias: 71 varones y 52 niñas. Son: 35 neuropatías hereditarias sensitivomotoras, 17 distrofinopatías, 10 distrofias miotónicas, 10 atrofias musculares espinales, cuatro distrofias congénitas deficientes en merosina, otras cuatro distrofias musculares, tres miopatías mitocondriales, tres miastenias, dos neuropatías familiares con insensibilidad al dolor, dos ataxias de Friedreich, una neuropatía familiar con parálisis sensibles a la presión, un síndrome de Walker-Warburg, cinco polineuropatías asociadas a leucodistrofia y otros 25 casos sin tipificar. Los estudios genéticos han sido diagnósticos en 36 casos (29,2%): nueve distrofias miotónicas, ocho distrofinopatías, ocho atrofias musculares espinales, cuatro neuropatías hereditarias sensitivomotoras desmielinizantes, dos ataxias de Friedreich, dos distrofias musculares de cintura, una miastenia congénita, una enfermedad de McArdle y un síndrome de Kearns-Sayre. Conclusiones. La genética establece diagnósticos que previamente sólo pueden ser de presunción, y permite evitar biopsias musculares, lo que es satisfactorio especialmente en niños. Es necesaria la actualización en los estudios inmunohistoquímicos y guardar sistemáticamente muestras biológicas en los casos sin diagnóstico (AU)

Introduction. Hereditary neuromuscular diseases are disorders which can vary largely in their age of onset, symptoms and severity. Many are severe, disabling and have an important personal, familial and social impact and can restrict the prognosis for survival. The constant progress being made in diagnostics makes it necessary to continually update knowledge and information. Patients and methods. We carried out a review of the hereditary neuromuscular diseases contained in the Neuropaediatrics database at the Hospital Miguel Servet in Zaragoza from May 1990 to October 2004. Results. Of the 7,805 patients in the database, 123 (1.5% of the total) were patients with hereditary neuromuscular diseases, of whom 71 were males and 52 females. These included: 35 sensory-motor hereditary neuropathies, 17 dystrophinopathies, 10 myotonic dystrophies, 10 spinal muscular atrophies, four merosin-deficient congenital dystrophies, four other muscular dystrophies, three mitochondrial myopathies, three myasthenias, two familial neuropathies with insensitivity to pain, two Friedreich’s ataxias, one familial neuropathy with liability to pressure palsies, one case of Walker-Warburg syndrome, five polyneuropathies associated to leukodystrophy and another 25 cases that could not be classified. Genetic studies provided a diagnosis in 36 cases (29.2%): nine myotonic dystrophies, eight dystrophinopathies, eight cases of spinal muscular atrophy, four demyelinating sensory-motor hereditary neuropathies, two instances of Friedreich’s ataxia, two limb-girdle muscular dystrophies, one congenital myasthenia, one McArdle’s disease and one case of Kearns-Sayre syndrome. Conclusions. Genetic studies enable us to establish diagnoses that were previously limited to the realm of assumption, and allow us to avoid the need for muscle tissue biopsies, which is a welcome development, especially when dealing with children. Immunohistochemical studies need to be updated and biological samples should be systematically saved in cases where no diagnosis is reached (AU)

[Hereditary neuromuscular diseases in paediatrics. Our experience over the last 14 years]. / Enfermedades neuromusculares hereditarias en pediatría. Nuestra experiencia de 14 años.

INTRODUCTION: Hereditary neuromuscular diseases are disorders which can vary largely in their age of onset, symptoms and severity. Many are severe, disabling and have an important personal, familial and social impact and can restrict the prognosis for survival. The constant progress being made in diagnostics makes it necessary to continually update knowledge and information. PATIENTS AND METHODS: We carried out a review of the hereditary neuromuscular diseases contained in the Neuropaediatrics database at the Hospital Miguel Servet in Zaragoza from May 1990 to October 2004. RESULTS: Of the 7,805 patients in the database, 123 (1.5% of the total) were patients with hereditary neuromuscular diseases, of whom 71 were males and 52 females. These included: 35 sensory-motor hereditary neuropathies, 17 dystrophinopathies, 10 myotonic dystrophies, 10 spinal muscular atrophies, four merosin-deficient congenital dystrophies, four other muscular dystrophies, three mitochondrial myopathies, three myasthenias, two familial neuropathies with insensitivity to pain, two Friedreich's ataxias, one familial neuropathy with liability to pressure palsies, one case of Walker-Warburg syndrome, five polyneuropathies associated to leukodystrophy and another 25 cases that could not be classified. Genetic studies provided a diagnosis in 36 cases (29.2%): nine myotonic dystrophies, eight dystrophinopathies, eight cases of spinal muscular atrophy, four demyelinating sensory-motor hereditary neuropathies, two instances of Friedreich's ataxia, two limb-girdle muscular dystrophies, one congenital myasthenia, one McArdle's disease and one case of Kearns-Sayre syndrome. CONCLUSIONS: Genetic studies enable us to establish diagnoses that were previously limited to the realm of assumption, and allow us to avoid the need for muscle tissue biopsies, which is a welcome development, especially when dealing with children. Immunohistochemical studies need to be updated and biological samples should be systematically saved in cases where no diagnosis is reached.

Hipofisitis linfocíticasin disfunción pituitariaen paciente perimenopáusica / Lymphocytic hypophysitis without pituitary dysfunction in a perimenopausic patient

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[Eosinophilic cholecystitis associated with rupture of hepatic hydatid cyst of the bile ducts]. / Colecistitis eosinofílica asociada a ruptura de un quiste hidatídico hepático en vías biliares.

Eosinophilic cholecystitis is a rare finding characterized by an inflammatory infiltrate composed primarily of eosinophils. We report a case of eosinophilic cholecystitis associated with hepatic hydatic cyst ruptured into the biliary tract. The release of hydatid cyst content into the biliary tract may have induced a hypersensitivity reaction with numerous eosinophils in the gallbladder wall.

[Osteoblastic differentiation in primary renal tumor: a rare histologic finding]. / Diferenciación osteoblástica en tumor renal primario: una rareza histológica.

Presentation of one case of renal carcinoma which interest lies in the osteoblastic differentiation presented by the sarcomatoid component. The rarity of this tumour type in major series of sarcomatoid renal carcinomas published is emphasized. Also, a description of its most relevant singularities is made.

[Incidence of digestive system neoplasms. Trends. Soria 1981-1990]. / Incidencia neoplásica de aparato digestivo. Tendencias. Soria 1981-1990.

The aim of this study was to evaluate, to compare and to identify the various incidence rate trends in digestive tract malignant tumours in the province of Soria. Tumor sites and histological types, patient's age, sex and town and area residence were studied. All new cases of digestive tract malignant tumours were collected during the 1981-1990 period. 30.4% of all malignant tumours in men (1906 patients) and 29% in women (1,256 patients) came from digestive tract sites. Incidence rates for each site were calculated for the two 1981-1985 and 1986-1990 subperiods. The histology, rates and trends of the tumours were compared with the other national and international cancer registries. Gastric cancer showed the highest adjusted rate for men (35.1 x 10(5) and colo-rectal cancer one for women (14.7 x 10(5). The lowest rates were for men in the gallbladder (0.5) and liver (1.1) sites; and for women in the gallbladder (1.6), whose diminishing trend was significant (2.92/0.75) (p < 0.05) and liver (0.5). Colorectal cancer showed a marked increase between the two subperiods for both sexes (men: 13.1/27.6) (women: 9.8/19.2). Pancreas cancer trends ascended for both sexes (men: 1.22/2.74) (women: 0.13/1.46). Gastric cancer rates in Soria are higher than the rest of the cancer registries in Spain while gallbladder, liver, and colorectal, cancer rates are one of the lowest for both sexes. Trends are significantly increasing in colorectal sites for both sexes (p < 0.01), and for women only in the pancreas (p < 0.05). The other cancer rate sites showed lesser variations and are not statistically significant.

[Incidence and mortality of laryngeal neoplasms. Soria, 1950-1989]. / Incidencia y mortalidad neoplásica laríngea. Soria, 1950-1989.

Age-adjusted mortality and incidence rates for larynx cancer were calculated in Soria (urban and rural areas), for the 1950-89 and 1981-89 periods respectively. Both mortality and incidence rates were higher in urban area (p less than 0.01), and in males (p less than 0.01). There has been no increase in the mortality trend for the 1950-89 period. Age-adjusted incidence rates for men in Soria are higher respect to those reported in other countries. Soria and Murcia rates are the lowest in Spain larynx cancer records, being Asturias rates the highest in the world (20.6 per 100,000 population).

[Measles-related appendicitis. A report of a new case]. / Apendicitis sarampionosa. Aportación de un nuevo caso.

We present a case of "Measles Appendicitis" treated recently in our unit. We point out the lack of bibliographic references on this pathology, despite its relatively high rate of incidence. The possible coexistence of appendicitis and measles; along with the possibility of a bacterial superinfection of the obliterated appendix due to submucous lymphoid hyperplasia, in our opinion, justifies an initial surgical approach in patients with measles who suffer from bouts of diagnostically uncertain pain in the lower right abdomen.

[Mortality trends in gynecologic tumors in Soria. 1950-1985]. / Tendencias de mortalidad por tumores ginecológicos en Soria. 1950-1985.

We have carried out in the province of Soria neoplastic mortality tendency curves for tumors in the breast, uterus and ovaries, on the basis of their adjusted rates of mortality during four periods: three decades (1950-59/60-69/70-79) and one six-year period (1980-85). We have observed an increased risk of mortality due to breast tumors in women, which is statistically significant (p less than 0.01) in the global provincial figure, which has gone from an adjusted rate of 6.08 deaths per 10(5) women in 1950-59 to 14.25 in the years 1980-85. We have also detected an increased risk of ovarian tumors in the provincial total, rising from 0.48 to 2.0 deaths per 10(5) women, while those located in the uterus show a virtually stable mortality over the 36 years under study (5.89/1950-59) (5.24/1980-85) x 10(5) women. In relation to other existing figures, our rates are, in the case of breast and ovarian tumors, similar to the global Spanish figures and lower than those for Cataluña and Navarra. In the case of tumors of the uterus, the adjusted mortality rates are lower than the national average and lower than any other Spanish figures available.