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

TITLE: Miopatía de Bethlem: cuando el fenotipo confunde.

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.

[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.

[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.

[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.

[Geographic study of cancer of the stomach in Spain in relation to agricultural activities]. / Estudio geográfico del cáncer gástrico en España en relación con actividades agrarias.

The Spanish provinces with the highest risk of gastric cancer (CG) are in the Castilian meseta, where grain raising predominates. In other countries, high risk areas also correspond to inland, high altitude regions, and in some cases, like Chile, abundant fertilizer consumption. The present study attempts to relate the risk of this tumor in Spain to different types of agricultural activity. Pearson's linear correlation coefficient was calculated between the mortality rate due to gastric cancer in each of the 50 Spanish provinces and the different types of farming and cattle raising activities. The correlation with grain raising on nonirrigated land was positive and significant for mortality in both men (p less than 0.001) and women (p less than 0.01). The correlation between mortality from gastric cancer and cattle raising, particularly sheep, was also positive and significant in both sexes (p less than 0.001). The proportion of the irrigated and nonirrigated fields dedicated to fruit trees correlated negatively with mortality in both sexes, also with a significant difference (p less than 0.01). The authors suggest the need for further epidemiological investigation in Spain, particularly in areas of high risk of gastric cancer, to identify precisely the risk factors that could be related to agricultural activities.

[Mortality trends caused by neoplasms of the digestive system. Soria, 1950-1985]. / Tendencias de mortalidad por neoplasias de aparato digestivo. Soria, 1950-1985.

The deaths caused by tumours of the digestive system (oesophagus, stomach, colon-rectum, gallbladder and pancreas) recorded in the province of Soria between 1950 and 1985 have been analyzed according to risk and mortality rates. Standardized (adjusted) rates in relation to sex and site of residence (urban-rural) of the deceased were calculated for the decades 1950-1959, 1960-1969, 1970-1979 and the period between 1980 and 1985. Standard errors were calculated to establish confidence limits according to Miettinen's method. The data were obtained from the death certificates of the various registries of the Soria province, including name and surnames, sex, age and site of the tumour according to the 9th revision of the International Classification of Diseases. There is a significant decrease in the mortality risk for tumours of the stomach in both sexes (p less than 0.01) and in liver tumours in females (p less than 0.01). On the other hand, there is an increased risk in both sexes for pancreatic cancer (p less than 0.05 M, p less than 0.01 F) and for oesophageal tumours in men (p less than 0.05). Similarly, during 1980-1985 men were at a significantly greater risk of dying from oesophageal, gastric and liver cancer (p less than 0.01) as well as rectum and colon (p less than 0.05). As far as stomach tumours are concerned there are significant differences between rural and urban areas both in males (p less than 0.01) and in females (p less than 0.05).

[Mortality trends in respiratory tract tumors. Soria, 1950-1985]. / Tendencias de mortalidad por tumores de aparato respiratorio. Soria, 1950-1985.

From 1950 to 1985, we have ascertained the causes of deaths caused by respiratory tract tumors of the: mouth, nose, pharynx, larynx, trachea, bronchi, lungs and pleura. They have been grouped by sexes and divided among three decades (1950-1979) and a six-year period (1980-1985), Gross Rates (G.R.) and Standard Rates (S.R.) with relation to said parameters to plot their Death Rate Tendencies. An increasing death rate is observed in men as related to tumors of the bronchi and lungs, with a higher risk statistics which are quite significant from 1950 to 1985. On the other hand, there is a decrease in the deaths of both sexes due to neoplasias of the larynx. With regard to the oral tumors, there has been a minimum increase in the men over the last few years, the female death rate being practically nil. There are differences between men and women which are quite significant statistically with regard to death rates related to tumors of the mouth, larynx, Bronchi and lungs. Nevertheless, given the method for collecting data, it can only be used as a guide, due to the turns affecting the sources of information.

[Histopathologic evaluation of death certificates in Soria in 1985]. / Valoración histopatológica de los boletines de defunción en Soria en 1985.

The aim of this paper is to evaluate the quality of the Death Certificates by means of the Death Statistics Bulletins, in their NEOPLASIC aspect in the year 1985 in the Province of Soria, determining the histopathologic confirmation of the deaths by means of the neoplasic patients' records in the two existing Pathology Services. An overall histologic verification of 80.76% is observed in the cases with an I.C. of +/- 4.79. In the case of BREAST, HEMATOLOGIC, OROPHARYNX, ENDOMETRIUM, ESOPHAGUS, OVARIAN, LARYNX and VULVA tumors, it is 100%. Whereas it is 14.3% in HEPATIC Tumors. Of the total of deaths registered in said year, the percentage of deaths caused by malignant neoplasias is over 26%, more than a fourth of which were Gastric. The preparation of the Death Certificates should be modified so that they can be objectively evaluated epidemiologically without bias or mistakes.

[Trends in urologic neoplasm mortality and incidence (prostate, bladder, and kidney). Soria, 1950-1988]. / Tendencias de mortalidad e incidencia neoplásica urológica (próstata, vejiga y riñón). Soria 1950-1988.

The mortality rate for urological tumors in the province of Soria, Spain, was recorded from 1950 to 1988, as well as its incidence for the period 1981-1988. We classified data according to sex, age groups, tumor site and type, and patient residence (urban/rural). Rates were adjusted for the foregoing parameters and decades (1950-1959, 1960-1969, 1970-1979, 1980-1988) and compared with those of other national and international registries. Prostate, bladder and kidney tumors in men showed an increased mortality rate for the period 1950-1988 which was statistically significant (p less than 0.01), whereas the female mortality rate for this period hardly changed and remained very low. A higher risk potential was observed for bladder tumors for the urban than for the rural areas, with a significant difference for mortality and incidence for both sexes (p less than 0.01). There was also a higher incidence for tumors of the prostate in the urban areas (p less than 0.01). Like most registries, there was a prevalence of bladder tumors in males, in both areas, in mortality and incidence (p less than 0.01). Comparison with other national registries show our mortality and incidence rates are lower for both sexes. Comparison with international registries show this province has a medium-low risk for prostatic tumors and medium risk for bladder tumors in males and females. The risk potential for renal tumors could not be compared objectively. The incidence/mortality ratio (I/M) (adjusted rates) shows prognosis is good for bladder tumors (better in women than in men), poor for prostatic tumors, and bad for renal tumors.