Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy.

INTRODUCTION: The ALDH18A1 gene, encoding delta-1-pyrroline-5-carboxylate synthase (P5CS), is responsible for an autosomal recessive disease with severe developmental delay; more recently, ALDH18A1 was found to be responsible for SPG9, an autosomal dominant (AD) spastic paraplegia. CASE REPORT: We report a three-generation family with AD SPG9, initially suspected because of low citrulline on fasting plasma amino acid chromatography (AAC). Interestingly, in two patients, the spastic paraplegia appeared during pregnancy. One subject presented a severe childhood-onset form while another subject had a mild late-onset disease. CONCLUSION: The description of this family is of particular interest: it highlights the possibility of transient or permanent aggravation of spastic paraplegia due to SPG9 during pregnancy, suggesting a direct link between neurological symptoms and amino acid defect in a period of higher requirements and the potential benefit of amino acid supplementation; it underscores the value of plasma citrulline on fasting plasma AAC as a biomarker for this disease; it shows the variable expression of the disease.

Diagnóstico por imagen de la hipertensión portal / Imaging diagnosis of portal hypertension

La hipertensión portal (HTP) es una condición clínica definida por una presión hidrostática >5mmHg en el territorio venoso portal, siendo clínicamente significativa cuando es ≥10mmHg. A partir de este umbral pueden desarrollarse complicaciones, como sangrado de varices esofágicas, aparición de ascitis o encefalopatía hepática. Las técnicas de imagen tienen un papel importante como método no invasivo para determinar la presencia de HTP. En este artículo se analizan varios hallazgos radiológicos que pueden sugerir HTP y contribuir a definir su etiología, gravedad y posibles complicaciones

Portal hypertension is a clinical entity defined by a hydrostatic pressure greater than 5mm Hg in the portal territory, being clinically significant when it is greater than or equal to 10mm Hg. Starting from this threshold, complications can develop, such as the bleeding of esophageal varices, the appearance of ascites, or hepatic encephalopathy. Imaging techniques play an important role as a noninvasive method for determining whether portal hypertension is present. This article analyzes various imaging findings that can suggest the presence of portal hypertension and can help to define its etiology, severity, and possible complications

Imaging diagnosis of portal hypertension. / Diagnóstico por imagen de la hipertensión portal.

Portal hypertension is a clinical entity defined by a hydrostatic pressure greater than 5mm Hg in the portal territory, being clinically significant when it is greater than or equal to 10mm Hg. Starting from this threshold, complications can develop, such as the bleeding of esophageal varices, the appearance of ascites, or hepatic encephalopathy. Imaging techniques play an important role as a noninvasive method for determining whether portal hypertension is present. This article analyzes various imaging findings that can suggest the presence of portal hypertension and can help to define its etiology, severity, and possible complications.

An observational study of driving distractions on urban roads in Spain.

The present research investigated the prevalence of driver engagement in secondary tasks and whether there were any differences by age and gender, as well as day of the week and time of the day. Two independent researchers observed 6578 drivers at nine randomly selected urban locations in Girona, Spain. Nearly 20% of the drivers observed were engaged in some type of secondary task, with the most common being: conversing with a passenger (11.1%), smoking (3.7%) and talking on a handheld mobile phone (1.3%). Surprisingly there were no differences by gender, but there were age-related differences with younger drivers being more frequently observed engaged in a number of different types of secondary tasks while driving (i.e. drinking, talking on a handheld mobile phone, and texting or keying numbers). Logistic regression showed that younger drivers, and to a lesser extent middle-age drivers, were significantly more likely to be observed engaged in a technological distraction than older drivers. Conversely, non-technological distractions were significantly predicted by day of the week, time of the day and location. A substantial number of the drivers observed in this study were putting themselves at an increased risk of becoming involved in a crash by engaging in non-driving related tasks at the same time as driving. Furthermore, the higher crash rate among young drivers may be partially accounted for by their more frequent engagement in some types of secondary tasks while driving.

Stages of change and decisional balance for condom use with a romantic partner.

This article examines the relationship between decisional balance and stages of change for consistent condom use with a current romantic heterosexual partner. The sample consisted of 619 undergraduate students (35.1% males; mean of age = 20.31). The results show that the pros and cons of using condoms were significantly related to the stages of change for condom use, but that the pros were more strongly related. Therefore, campaigns for preventing the transmission of the HIV virus and other sexually transmitted diseases should attempt to maximize the perceived advantages of condom use, rather than refuting the cons.

The pedestrian behaviour of Spanish adolescents.

Adolescent pedestrians are a particularly vulnerable group of road users. This research tested the applicability of the recently developed Adolescent Road user Behaviour Questionnaire (ARBQ) amongst a sample of 2006 Spanish adolescents. Confirmatory Factor Analysis of the full scale found that the original three factors did not adequately fit the data, but an acceptable fit was obtained for the shortened 21-item version of the scale. In line with research from the UK, the present study found that males reported more unsafe road crossing behaviour and playing on the roads, but there was no gender difference for engaging in planned protective behaviour. This research also confirmed that unsafe road crossing behaviour increased with age, while dangerous playing on the road and planned protective behaviours both decreased with age. The present study also confirmed that the ARBQ is a useful tool for investigating the safety-related behaviour of adolescents on the road.

[Value of transrectal FNA in the diagnosis of prostate cancer in elderly patients]. / Valor de la PAAF transrectal en el diagnóstico del cáncer de próstata en pacientes de edad avanzada.

OBJECTIVES: To identify if there is a group elderly patients with clinical suspicion of prostate cancer in which pathological confirmation may be unnecessary, and if prostatic transrectal fine needle aspiration (FNA) may be a useful diagnostic tool for old patients. MATERIAL AND METHODS: A total of 72 patients aged 75-93 years were evaluated by means of prostatic transrectal FNA. Antibiotic prophylaxis, analgesia or cessation of anticoagulant therapy were not necessary. RESULTS: In 35 patients (48.6%) cytological diagnosis was positive for prostatic adenocarcinoma, whereas in 37 cytology was negative for cancer. In 100% of patients with PSA > 30 ng/ml or with PSA > 20 ng/ml and suspicious digital rectal examination FNA results were positive for cancer. 4.1% minor and 1.3% major (acute prostatitis) complications after FNA were observed. CONCLUSIONS: In male patients older than 75 years with PSA > 30 ng/ml or with PSA > 20 ng/ml and suspicious digital rectal examination, histological confirmation of carcinoma by prostatic biopsy may be not necessary, because of the high probability of a positive result. When histological confirmation of prostatic carcinoma is required in elderly patients, transrectal prostatic FNA is a valid alternative to transrectal biopsy, due to its excellent tolerance and low complication rate.

Valor de la PAAF transrectal en el diagnóstico del cáncer de próstata en pacientes de edad avanzada / Value of transrectal FNA in the diagnosis of prostate cancer in elderly patients

Objetivos: Identificar si existe algún grupo de varones ancianos con sospecha clínica de cáncer de próstata, en el cual la confirmación anatomopatológica del diagnóstico puede no ser necesaria, y valorar si la punción aspiración con aguja fina (PAAF) transrectal de próstata puede ser adecuada para el diagnóstico en la población anciana. Material y método: Se evaluaron mediante PAAF transrectal a 72 pacientes de edades comprendidas entre 75 y 93 años. No fue necesaria la administración de ningún tipo de profilaxis antibiótica, analgesia, ni el abandono o sustitución de medicación anticoagulante. Resultados: En 35 de estos pacientes (48,6%) el resultado de la citología fue positivo para adenocarcinoma de próstata, mientras que en 37 fue negativo para tumor. En el 100% de los pacientes con PSA > 30 ng/ml o con PSA> 20 ng/ml y tacto rectal sospechoso de cáncer, la PAAF fue positiva. Se detectó un 4,1% de complicaciones menores y un 1,3% de complicaciones mayores (prostatitis aguda). Conclusiones: En varones mayores de 75 años con PSA > 30 ng/ml o con PSA > 20 ng/ml y tacto rectal sospechoso puede no ser necesaria la confirmación histológica de cáncer de próstata mediante biopsia dada la elevada probabilidad de que ésta sea positiva. Cuando se considere necesaria la confirmación anatomopatológica del diagnóstico de cáncer de próstata en pacientes de edad avanzada, la PAAF constituye una buena alternativa a la biopsia transrectal, dada su excelente tolerancia y baja tasa de complicaciones (AU)

Objectives: To identify if there is a group elderly patients with clinical suspicion of prostate cancer in which pathological confirmation may be unnecessary, and if prostatic transrectal fine needle aspiration (FNA) may be auseful diagnostic tool for old patients. Material and methods: A total of 72 patients aged 75 - 93 years were evaluated by means of prostatic transrectal FNA. Antibiotic prophylaxis, analgesia or cessation of anticoagulant therapy were not necessary. Results: In 35 patients (48.6%) cytological diagnosis was positive for prostatic adenocarcinoma, whereas in 37cytology was negative for cancer. In 100% of patients with PSA > 30 ng/ml or with PSA > 20 ng/ml and suspicious digital rectal examination FNA results were positive for cancer. 4.1% minor and 1.3% major (acute prostatitis) complications after FNA were observed. Conclusions: In male patients older than 75 years with PSA > 30 ng/ml or with PSA > 20 ng/ml and suspicious digital rectal examination, histological confirmation of carcinoma by prostatic biopsy may be not necessary, because of the high probability of a positive result. When histological confirmation of prostatic carcinoma is required in elderly patients, transrectal prostatic FNA is a valid alternative to transrectal biopsy, due to its excellent tolerance and low complication rate (AU)

Cancer testicular bilateral: presentación de cuatro casos / Bilateral testicular cancer: a report of four cases

El cáncer testicular bilateral suponen el 2-5 % de todos los tumores de testículo, aunque actualmente esa prevalencia va aumentando. La edad media de aparición es de los 15-35 años y el 75 % de ellos se presenta metacrónicamente. Suele haber hallazgos histológicos similares en ambos testículos, siendo el tipo histológico más frecuente el seminoma. El factor de riesgo más importante en el desarrollo del cancer testicular es la presencia de neoplasia intratubular de células germinales. El tratamiento de elección es la orquiectomía radical , aunque en algunos casos seleccionados se puede realizar una cirugía conservadora del testículo Presentamos 4 casos atendidos en nuestro servicio, analizamos los factores de riesgo, manejo de los tumores y realizamos una revisión de la literatura médica

Bilateral testicular cancer represents from 2 to 5 % of all testicle tumors, even though this prevalence nowadays is increasing. The median age of presentation was from 15 to years and in approximately 75 % of them occurred metachronously. There used to be concordance in histological findings between both testicles, being seminoma the most common histological type. The most important risk factor in the development of testicular cancer is the presence of intratubular germ cell neoplasia. Radical orquiectomy is the treatment to choose, although in some carefully selected patients testis-sparing surgery may be considered. We present four cases attended in our medical service, we analize the risk factors, management of tumors and a medical literature review is done

[Cutaneous metastases of renal cell carcinoma]. / Metastasis cutánea de carcinoma de células renales.

Renal cell carcinoma has an unknown evolution. We report a case of a man with a skin metastases from renal cell carcinoma and an unfortunate result, five years after its radical surgical treatment. We review the literature and emphasize the need of a long and exhaustive surveillance in these patients.

Metástasis cutánea de carcinoma de células renales / Cutaneous metastases of renal cell carcinoma

El carcinoma de células renales se caracteriza por su evolución impredecible. Presentamos un caso clínico de aparición de metástasis cutánea de carcinoma renal de células claras con pronóstico ominoso, tras cinco años de tratamiento quirúrgico curativo del primario renal. Revisamos la literatura e incidimos en la necesidad de un seguimiento prolongado y exhaustivo en estos pacientes

Renal cell carcinoma has an unknown evolution. We report a case of a man with a skin metastases from renal cell carcinoma and an unfortunate result, five years after its radical surgical treatment. We review the literature and emphasize the need of a long and exhaustive surveillance in these patients

[Bilateral testicular cancer: a report of four cases]. / Cancer testicular bilateral: presentación de cuatro casos.

Bilateral testicular cancer represents from 2 to 5% of all testicle tumors, even though this prevalence nowadays is increasing. The median age of presentation was from 15 to years and in approximately 75% of them occurred metachronously. There used to be concordance in histological findings between both testicles, being seminoma the most common histological type. The most important risk factor in the development of testicular cancer is the presence of intratubular germ cell neoplasia. Radical orquiectomy is the treatment to choose, although in some carefully selected patients testis-sparing surgery may be considered. We present four cases attended in our medical service, we analize the risk factors, management of tumors and a medical literature review is done.

Consumo de tabaco en el lugar de trabajo: interacciones entre fumadores y no fumadores respecto al cumplimiento de la normativa / Somiking at workplace: smokers and non-smokers interactions with respect to compliance with tobacco legislation

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Percepción del riesgo de transmisión sexual del VIH en estudiantes de bachillerato / Risk perception of HIV sexual transmission in high school students

En una muestra de 108 estudiantes de segundo curso de bachillerato se han evaluado la intención de conducta frente a una situación de riesgo simulada de transmisión sexual del virus del sida y los conocimientos y creencias respecto a los métodos preventivos más eficaces para evitar la infección con el VIH. Aunque la mayoría de los jóvenes informan sobre su intención de llevar a cabo conductas preventivas con una pareja ala que acaban de conocer, el 11 % de ellos pondría en claro riesgo su salud. Más de las dos quintas partes dela muestra comunican que no pensaron en el sida en el momento de decidir su respuesta: casi todos ellos, tanto chicos como chicas, se preocuparon por los embarazos. La práctica totalidad de los estudiantes consideran que el preservativo es el método más eficaz para la prevención de la transmisión sexual del virus del sida y piensan que su eficacia es elevada. En ninguna de las variables examinadas se han encontrado diferencias significativas en función del sexo. El análisis de los datos cualitativos permite detectar la existencia de creencias erróneas en algunos estudiantes que convendría tener en cuenta en los programas preventivos futuros y que sugieren la conveniencia de insistir con claridad en los aspectos biológicos de la transmisión, en lugar de emplear expresiones culturalmente sesgadas. También se debería aprovechar la preocupación que causan en un gran número de jóvenes los embarazos no deseados para promocionar el preservativo como anticonceptivo. De esta forma disfrutarían de una triple protección: frente al embarazo, el sida y otras enfermedades de transmisión sexual

This research assessed behavioral intentions in a situation designed to simulate the risk of HIV sexual transmission. Participants were 108 high school students. The students were also asked about their knowledge and beliefs about the most effective methods to avoid HIV infection. Although the majority of participants reported the intention to engage in preventative sexual behavior with an unknown couple, 11% of them would expose themselves to risk. More than four from each ten adolescents didn’t think about AIDS when they answered, but almost all of them worried about an unwanted pregnancy. The vast majority of the students reported that condom use was the best method for avoiding the sexual transmission of HIV, and they believed that it was highly effective. There were no differences between males and females in the assessed variables. A number of students have incorrect beliefs about HIV sexual transmission. These beliefs should be taken into account when planning future preventive programs. It is very important to clarify the biological side of transmission instead of using culturally biased expressions. Also it would appear sensible to make use of the degree of concern about unwanted pregnancy to promote condom use as an effective contraceptive method. This will provide them with protection against: pregnancy, AIDS and other sexual transmitted diseases

An investigation of factors reducing seat belt use amongst Spanish drivers and passengers on urban roads.

Seat belt use on Spain's highways is more than 80%, while on the urban roads this figure is around 50%. As there was little information available to explain the difference in seat belt use rates, the main aim of this study was to investigate why there is a lower rate of seat belt use on urban roads. A number of perceptions, beliefs and expectancies about seat belt use were examined to identify variables that discriminated between seat belt users and non-users on urban roads. The subjects were 398 undergraduate students (aged 17-47) studying at the University of Girona, Spain. On the urban roads reported discomfort from using the seat belt was higher, while perceptions of risk (for non-users), safety perceptions (for those using a seat belt), beliefs about the seriousness of a crash or the effectiveness of the seat belt were all lower than on the highway. Perceptions of safety, discomfort, and social influence predicted seat belt use on urban roads. Concern about being fined for not using a seat belt did not predict seat belt use. The results of this research suggest that in order to increase seat belt use on urban roads, the issue of discomfort must be addressed. In addition, prevention campaigns should include information about the effectiveness of the seat belt in preventing/reducing injuries or deaths on urban roads. The results also highlight the importance of social influence for determining seat belt use/non-use and the potential role social influence could play in increasing seat belt usage.

[Study of cathepsin D levels in invasive bladder cancer and its stroma. Correlation with tumor stage, cytological grade, lymph node metastasis and survival]. / Estudio de los niveles de catepsina D en el tumor vesical infiltrante y en su estroma, y de su correlación con el estadio tumoral, grado citológico, afectación ganglionar y supervivencia.

OBJECTIVE: The aim of this study was to evaluate cathepsin D as a prognostic marker in invasive bladder cancer and to determine its relationship with stage, grade, lymph-node metastasis and survival too. MATERIAL AND METHODS: An immunohistochemical staining of 32 radical cystectomy specimens suffering from transitional cell carcinoma was performed, using a monoclonal antibody anti-cathepsin D (Novocastra). We made a semicuantitative measurement of the cathepsin D expression in the tumor and in the peritumoral stroma in a 400 x microscopic high power field. Patient population was composed of 31 men and 1 woman with a mean age of 63.25 years. The mean follow up was 23.6 months. Stage was classified with the WHO 1997 classification. Grade was classified with the ISUP/WHO 1998 classification. For the statistical analysis the Chi-square test, Pearson's test R, the Kaplan Meier method and the log-rank test were used. RESULTS: The pathological stages of the surgical specimens were as follows: pTo:3.1% (1), pT1:12.5% (4), pT2:15.6% (5), pT3:34.4% (11). (p < 0.001) A high cytologic grade was found in 81.25% of the tumors. There was a 43.8% progression rate and 40.6% mortality. There was no statistically significant relationship among Cathepsin's D levels in the stroma and lymph node metastases, stage, or grade (p = 0.473, p = 0.604, p = 0.2423). There was no statistically significant relationship among Cathepsin's D levels in the tumor and lymph node metastases, stage or grade (p = 0.496, p = 0.722 and p = 0.461). The cathepsin D levels, neither in the stroma nor in the tumor, showed no influence neither on the disease free intervals nor in the survival rates (p = 0.785; p = 0.355 and p = 0.614; p = 0.601 respectively). CONCLUSIONS: Immunohistochemical Cathepsin D levels do not seem to play a role in the prognostic of transitional tumors of the urinary bladder.

Estudio de los niveles de catepsina D en el tumor vesical infiltrante y en su estroma, y de su correlación con el estadio tumoral, grado citológico, afectación ganglionar y supervivencia / Cathepsin D levels study in invasive bladder cancer and its stroma. Correlation with tumor stage grade, lymph-node metastasis and survival

OBJETIVO: Evaluar la catepsina D como marcador pronóstico en el carcinoma transicional vesical infiltrante y determinar su relación con variables pronósticas reconocidas como son el estadio, el grado y la afectación ganglionar.MATERIAL Y MÉTODOS: Se realizó una tinción inmunohistoquímica de 32 piezas de cistectomía radical afectadas por carcinoma transicional infiltrante, practicadas entre noviembre de 1996 y mayo de 1999, con anticuerpo monoclonal anti catepsina D (Novocastra), realizando una medición semicuantitativa de la expresión de catepsina en las células tumorales y en el estroma peritumoral por campo de 400x.La serie estudiada se compuso de 31 varones y una mujer con un rango de edad entre 41 y 75 años y una edad media de 63,25 años (Desviación estandard de 8,77) y un seguimiento medio de 23,6 meses (1 a 44 meses). Los estadios se clasificaron según la clasificación de la WHO de 1997. El grado citológico se clasificó según la clasificación de la ISUP /WHO de 1998.Para el análisis de las variables se utilizó el test Chi-Cuadrado y test R de Pearson. El test de supervivencia se realizó según el método de Kaplan Meier y los niveles de significado mediante el test del logaritmo del rango (log-rank test).RESULTADOS: Los estadios diagnosticados en el momento de realizar la cistectomía fueron: pTo:3,1 per cent (1), pT1:12,5 per cent (4), pT2:15,6 per cent (5), pT3:34,4 per cent (11), pT4: 34,4 per cent (11). (p<0,001).El 81,25 per cent de los tumores fueron de alto grado citológico y el 18,75 per cent de los tumores fue de bajo grado.Se apreció afectación ganglionar en el 40,7 per cent de los casos.Existió una progresión del 43,8 per cent y una mortalidad del 40,6 per cent.No se encontraron valores significativos de asociación entre el nivel de catepsina en el estroma y el grado de afectación ganglionar, estadio tumoral o grado citológico (p=0,473, p=0,604, p=0,2423 respectivamente), ni con los niveles de catepsina tumoral y los parámetros referidos anteriormente (p=0,496, p=0,722 y p=0,461 respectivamente).Los niveles de catepsina en el estroma y tumor no mostraron influencia en los intervalos libres de enfermedad (p=0,785 y p=0,355 respectivamente) ni sobre la supervivencia (p=0,614 y p=0,601).CONCLUSIÓN: En nuestra serie la determinación semicuantitativa de los niveles de catepsina D con métodos inmunohistoquímicos no aporta información pronóstica en el tumor vesical infiltrante (AU)

[Candidiasis of the upper urinary tract. Report of a case]. / Candidiasis del tracto urinario superior. A propósito de un caso.

OBJECTIVE: We report a case of candidiasis of the upper urinary tract that presented as acute renal failure associated with septic syndrome. The patient initially required hemodialysis. Right hydronephrosis and perirenal collection were observed on ultrasound examination. METHODS: A percutaneous nephrostomy was performed. Nephrostomy urine cytology and cultures were positive for Candida tropicalis. An anterograde pyelography showed a 'fungus ball' in the urinary tract. RESULTS: Therapy with oral fluconazole and percutaneous amphotericin B achieved excellent results. CONCLUSIONS: Candidiasic urinary infection of the upper urinary tract often produces obstructive uropathy requiring percutaneous nephrostomy, which can also be used to instill amphotericin B. Combination therapy with amphotericin B and fluconazole can achieve excellent results.

Efficacy and safety of a perioperative enoxaparin regimen in total hip replacement under various anesthesias.

Four trials in which enoxaparin, a low-molecular-weight heparin, was used in patients having hip surgery are reported. In the first two trials, enoxaparin was given before general anesthesia. The protocol consisted of 40 mg of enoxaparin, 4,000 anti-factor Xa IU, subcutaneously 12 hours before surgery, followed by the same dose 12 hours after surgery and then once daily. In the third trial, this protocol was compared with unfractionated heparin calcium given in a standardized manner and appeared to be significantly superior both in efficacy and tolerance. In the fourth trial, the protocol was adapted for use in spinal subarachnoidal anesthesia; 20 mg of enoxaparin, 2,000 anti-factor Xa IU, was given subcutaneously 1 hour after anesthesia and 40 mg 12 hours later. In all these trials tolerance was good. Excessive bleeding did not occur with the 40 mg once daily regimen. Efficacy was good and compared favorably with other protocols in use.

Differential staining of mucin granules from epoxy resin sections by a phosphotungstic acid-methyl green procedure.

After treatment of epoxy resin semithin sections from glutaraldehyde fixed rat large intestine with 5% aqueous phosphotungstic acid (PTA), staining with unpurified 0.2% solutions of methyl green at 60 C for 5 min produces a color differentiation between mucin granules of goblet cells. Some mucin granules and the glycocalyx appear deep green while the remaining granules, luminal mucin and collagen fibers are pink. The known contamination of unpurified methyl green with crystal violet seems to be responsible for the pink staining reaction of the latter structures, which also present an orange-red fluorescence under green exciting light. Electron microscopic observations show selective contrast of mucin granules which appear with a different amount of PTA deposits. This procedure is useful to reveal the heterogeneity of mucin granules in light and electron microscopy.