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.

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.

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.

[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.

[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.

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.

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.

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.

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.

[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.

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.

Enoxaparine low molecular weight heparin: its use in the prevention of deep venous thrombosis following total hip replacement.

UNLABELLED: The effect of Enoxaparin in the prevention of thromboembolism after total hip prosthesis has been controlled by phlebography. 228 consecutives patients were studied with 4 dose regimens: 60 mg once a day, 40 mg once a day, and 30 and 20 mg twice a day. CONCLUSIONS: a total dose of 40 mg once a day or twice a day gives a rate of postoperative thrombosis of 8%.

Once-daily dosing of enoxaparin (a low molecular weight heparin) in prevention of deep vein thrombosis after total hip replacement.

The main results of three successive prospective clinical trials which represent the successive steps in the definition of once-daily dosing of enoxaparin in elective hip surgery are demonstrated. In the first trial, a dose of 40 mg/day (4000 anti-Factor Xa IU), in one or two subcutaneous injections, was preferred to a dose of 60 mg because it gave the same efficacy with a better tolerance. In a second, randomized double-blind trial, the two modes of administration of a dose of 40 mg, in one or two injections daily, were found to be equivalent with regard to tolerance and efficacy. In a third prospective, controlled, randomized, double-blind multicentre trial, once-daily dosing of enoxaparin at the dose of 40 mg was found superior to 5000 IU of unfractionated heparin tds with regard to tolerance and efficacy. It is concluded that the dose of 40 mg/day, begun 12 h pre-operatively, gives the best benefit:risk ratio in elective hip surgery.

[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.

[Streptococcal perianal disease and balanoposthitis]. / Enfermedad perianal estreptocócica y balanopostitis.

Two cases are reported in which Lancefield group beta-haemolytic streptococci were isolated from culture- from the perineal skin. The physical examination showed perianal irritation and excoriation in both cases and seropurulent anal and balano-preputial discharge in the first only. To the best of our knowledge, this is the first case in which the streptococcal perianal disease is associated to a balanoposthitis and at the same time increments the clinical spectrum of the illness.