Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.

INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. PATIENTS AND METHODS: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. RESULTS: We gathered data from a total of 1933 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 938 patients were men (48.5%) and 995 were women (51.5%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. CONCLUSIONS: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials.

Survival after biochemical failure in prostate cancer treated with radiotherapy: Spanish Registry of Prostate Cancer (RECAP) database outcomes.

INTRODUCTION: The clinical course in patients with prostate cancer (PCa) after biochemical failure (BF) has received limited attention. This study analyzes survival time from recurrence, patterns of progression, and the efficacy of salvage therapies in patients treated with radical or postoperative radiotherapy (RT). METHODS: This is a multicenter retrospective comparative study of 1135 patients diagnosed with BF and treated with either radical (882) or postoperative (253) RT. Data correspond to the RECAP database. Clinical, tumor, and therapeutic characteristics were collected. Descriptive statistics, survival estimates, and comparisons of survival rates were calculated. RESULTS: Time to BF from initial treatment (RT or surgery) was higher in irradiated patients (51 vs 37 months). At a median follow-up of 102 months (14-254), the 8-year cause-specific survival (CSS) was 80.5%, without significant differences between the radical (80.1%) and postoperative (83.4%) RT groups. The 8-year metastasis-free survival rate was 57%. 173 patients (15%) died of PCa and 29 (2.5%) of a second cancer. No salvage therapy was given in 15% of pts. Only 5.5% of pts who underwent radical RT had local salvage treatment and 71% received androgen deprivation (AD) ± chemotherapy. The worst outcomes were in patients who developed metastases after BF (302 pts; 26.5%) and in cases with a Gleason > 7. CONCLUSIONS: In PCa treated with radiotherapy, median survival after BF is relatively long. In this sample, no differences in survival rates at 8-years have been found, regardless of the time of radiotherapy administered. AD was the most common treatment after BF. Metastases and high Gleason score are adverse variables. To our knowledge, this is the first study to compare outcomes after BF among patients treated with primary RT vs. those treated with postoperative RT and to evaluate recurrence patterns, treatments administered, and causes of death. The results allow avoiding overtreatment, improving quality of life, without negatively affecting survival.

Concurrent segregation and erosion effects in medium-energy iron beam patterning of silicon surfaces.

We have bombarded crystalline silicon targets with a 40 keV Fe+ ion beam at different incidence angles. The resulting surfaces have been characterized by atomic force, current-sensing and magnetic force microscopies, scanning electron microscopy, and x-ray photoelectron spectroscopy. We have found that there is a threshold angle smaller than 40° for the formation of ripple patterns, which is definitely lower than those frequently reported for noble gas ion beams. We compare our observations with estimates of the value of the critical angle and of additional basic properties of the patterning process, which are based on a continuum model whose parameters are obtained from binary collision simulations. We have further studied experimentally the ripple structures and measured how the surface slopes change with the ion incidence angle. We explore in particular detail the fluence dependence of the pattern for an incidence angle value (40°) close to the threshold. Initially, rimmed holes appear randomly scattered on the surface, which evolve into large, bug-like structures. Further increasing the ion fluence induces a smooth, rippled background morphology. By means of microscopy techniques, a correlation between the morphology of these structures and their metal content can be unambiguously established.

Independence of interrupted coarsening on initial system order: ion-beam nanopatterning of amorphous versus crystalline silicon targets.

Interrupted coarsening (IC) has recently been identified as an important feature for the dynamics of the typical length-scale in pattern-forming systems on surfaces. In practice, it can be beneficial to improve pattern ordering since it combines a certain degree of defect suppression with a limited increase in the typical pattern wavelength. However, little is known about its robustness with respect to changes in the preparation of the initial system for cases with potential applications. Working in the context of nano-scale pattern formation by ion-beam sputtering (IBS), we prove that IC properties do not depend on sample preparation. Specifically, interface dynamics under IBS is quantitatively compared on virgin amorphous and crystalline silicon surfaces, using 1 keV Ar(+) ions at normal incidence where nanodot pattern formation is triggered by concurrent co-deposition of Fe atoms during processing. Atomic force microscopy shows that dot patterns with similar spatial order and dynamics are obtained in both cases, underscoring the key dynamical role of the amorphous surface layer produced by irradiation. Both systems have been quantitatively described by an effective interface equation. We employ a new procedure based on the linear growth of the initial surface correlations to accurately estimate the equation coefficients. Such a method improves the predictive power of the interface equation with respect to previous studies and leads to a better description of the experimental pattern and its dynamical features.

[Disexecutive syndrome in psychopathy]. / El sindrome disejecutivo en la psicopatia.

INTRODUCTION: The executive function is a collection of cognitive abilities that allow the anticipation and establishment of goals, the formation of plans and programs, the beginning of activities and mental operations, the auto regulation of tasks, and the ability to carry on them efficiently. Both psychopathy and disexecutive syndrome have been considered as prototypes of frontal lobe damage, although they have been related very recently. DEVELOPMENT: Psychopathy construct is not clear defined in the international classifications of mental disorders. They have focused only in the antisocial disorder of personality. A clear conceptual delimitation of psychopathy is necessary. The typical behaviours of psychopaths could be related with structural and functional brain alterations showed by the neuroimaging techniques and neuropsychological tests. These deficits are the neurological support of the inability of psychopaths to the integration of reasoning process with emotions, and specifically, of the presence of symptoms as impulsivity, inattention, context dependency, pathological perseverations and metacognitive alteration. CONCLUSION: The relevant conclusion of this study is the close relationship between reasoning and emotion. Executive function could be the explaining nexus of this connection.

[Cardiac cryopreservation at subzero temperatures: study of systolic and diastolic function]. / Criopreservación cardíaca a temperatura subcero: estudio de la función sistólica y diastólica.

UNLABELLED: We studied the alterations produced in left ventricular systolic and diastolic function after applying a protocol of cryopreservation at subzero temperatures. Isolated rabbit hearts were used for the study with 5% polyethylene glycol (PM 4000) being the cryoprotective agent. MATERIALS AND METHODS: The cryoprotectant solution CP-16 was used on the explanted heart in three phases: induction, storage and thawing. After 60 minutes at -1.6 C and thawing at 2.7 C/min, the heart was connected to a Langendorff system and perfused anterogradely with Krebs-Henseleit buffer. We analyzed the systolic and diastolic parameters before and after cryopreservation, thereby establishing a comparative statistical study. RESULTS: Following cryopreservation we found a statistically significant increase (p < 0.05) in the peak and developed pressure of the left ventricle with an upward, left displacement of the ventricular function curve. This is indicative of improvement in systolic function. However, the diastolic function showed worsening, with a statistically significant increase (p < 0.05) in mean stiffness, decrease in differential stiffness (p < 0.05) and upward, left displacement of the diastolic pressure-volume curve. CONCLUSIONS: On the basis of our results we concluded that: a) PM 4000 polyethylene glycol maintains the heart biological viability during cryopreservation at subzero temperatures, and b) after an cryopreservation left ventricular diastolic function worsens with an increase in systolic function.

Coronary vasomotor disorders during hypoxia-reoxygenation: do calcium channel blockers play a protective role?

During heart surgery, myocardial dysfunction may occasionally appear when extracorporeal circulation is discontinued, causing serious haemodynamic disorders. Many mechanisms are involved in this hypoxia-reoxygenation syndrome. The aim of this experimental study was to characterize the vasomotor disorders that take place in the isolated porcine coronary artery during in vitro hypoxia-reoxygenation and to analyse the effect of nifedipine on them. Rings of porcine coronary artery were placed in an organ chamber connected to a system that recorded isometric forces. The vascular rings were divided into two groups: control group (no nifedipine) and study group (nifedipine, 10(-6) mol/l). The vascular rings were precontracted with 30 mmol/l KCl and then hypoxia-reoxygenation was induced. Control arterial rings showed important changes in coronary vasomotor tone: severe hypoxic contraction (from 14.48+/-1.16 g of stable contraction to 17.6+/-0.44 g after the imposition of hypoxia), and transient vasodilation during reoxygenation (69.9+/-10.1% of the maximum contraction achieved). The nifedipine group experienced a slow, progressive, vasodilation throughout the whole experiment (73+/-3.5% of the maximum contraction). Neither hypoxic vasospasm nor fluctuations of the coronary vascular tone occurred. Thus, at the end of the hypoxia, the control vessels presented a degree of contraction similar to the initial level. However, in the rings treated with nifedipine, the percentage of dilation was 73+/-3.5% (P<0.05). In the isolated porcine coronary artery with intact endothelium undergoing a situation of hypoxia-reoxygenation, we have detected transient vasoconstriction during the first period of hypoxia, followed by vasodilation during reoxygenation. The intracoronary administration of nifedipine prior to the imposition of hypoxia prevents hypoxic contraction, achieving a greater and more stable degree of coronary vasorelaxation during the complete process of hypoxia-reoxygenation.

Alteration in diastolic function following cardiac cryopreservation at subzero temperatures.

BACKGROUND: We have studied the alterations produced in the diastolic function of the left ventricle after applying a protocol of cryopreservation at subzero temperatures. METHODS: Isolated rabbit hearts and 5% polyethylene glycol (PM 4000) as the cryoprotective agent were used for the study. RESULTS-CONCLUSIONS: Following cryopreservation we found a statistically significant increase in systolic function. However, the diastolic function shows worsening, with a statistically significant increase (p < 0.05) in mean stiffness, decrease in differential stiffness, (p < 0.05) and upward and leftward displacement of the diastolic pressure-volume curve.

[Acute pain due to vinorelbine]. / Dolor agudo por vinorelbina.

OBJECTIVE: To report the presence of an uncommon adverse effect, pain in the tumor location, during the administration of the cytostatic agent vinorelbine. METHOD: Twenty-seven patients with non operable relapses of epidermoid carcinomas of the head and neck were treated with two combinations of cytostatics: mitomycin-c 10 mg/m2 on day 1 plus vinorelbine 25 mg/m2 on days 1, 8 and 15 in twelve patients or carboplatin 300 mg/m2 on day 1 plus vinorelbine 25 mg/m2 on days 1, 8 and 15 in fifteen patients. RESULTS: Six patients had moderate/severe pain in the tumor location; concomitantly, one patient had chest pain. Four patients required major opiates. The clinical picture reverted and no patient had acute or chronic neurotoxicity. The readministration of vinorelbine triggered pain again, and all patients refused to continue the therapeutic program. CONCLUSION: Vinorelbine can cause pain at tumor location, a nonserious adverse effect which, nevertheless, prevented the continuation of therapy.

[Presence of Pneumocystis carinii in cerebrospinal fluid]. / Pneumocistis carinii en líquido cefalorraquídeo.

Pneumocistis carinii is a ubiquitous protozoan present in mammals which frequently causes pulmonary problems in immunodeficient patients, especially those infected with the Human Immunodeficiency Virus. Given its particular affinity with the lung area, it is rarely present in other tissues. It has on occasions been detected in the liver, spleen and lymphatic ganglia, external auditory canal, skin and to a lesser extent, other organs. It is extremely rare that the pathogen in question produces extra-pulmonary clinical conditions. The case presented is that of an ex-intravenous drug user diagnosed as a carrier of the HIV/C-3 virus, who presented indications of meningeal pathology and in whose cephalorachidian fluid samples were detected Pneumocistis carinii cysts.

[Subcutaneous, pneumomediastinal, pneumopericardial emphysema and pneumothorax following retrosigmoid resection]. / Enfisema subcutáneo, neumomediastino, neumopericardio y neumotórax tras resección anterior de rectosigma.

Pulmonary alveolar rupture can occur spontaneously or as a result of mechanical ventilation or other causes, and may give rise to bullae or emphysema without producing extrapulmonary air. Most but not all cases occur in patients with underlying lung disease. We describe a patient with no history of lung disease who underwent anterior sigmoid resection under combined (general/epidural) anesthesia. Soon after the patient awoke from anesthesia, subcutaneous, pneumomediastinal and pneumopericardiac emphysema developed, along with bilateral pneumothorax. We discuss the possible causes of extra-alveolar air was well as ways to detect and treat it.

Variations in plasma amino acids in septic patients subjected to parenteral nutrition with a high proportion of branched-chain amino acids.

Sepsis is characterized by an increase in the plasma concentration of aromatic amino acids (AAAs) and those containing sulfur and a decrease in the branched-chain amino acids (BCAAs). We studied changes in the plasma aminogram of septic patients given different types of total parenteral nutrition (TPN), analyzing variations in accordance with the type of TPN used and the importance that the use of BCAA may have in these patients. We studied 80 patients with peritonitis divided into two groups of 40 patients each: group 1 was given a solution with 22.5% BCAA and group 2 a solution with 45% BCAA. High BCAA content caused an increase in the plasma concentrations of these amino acids and in the BCAA/AAA quotient and a decrease in AAAs. Plasma concentrations of leucine and valine reached high, potentially toxic levels at 15 days when solutions with high BCAA content were used. Glycine increased in group 1, which may be important because of its tendency to produce hyperammonemia. BCAAs are of unquestioned nutritional importance in view of the evidence of changes that take place in muscle protein catabolism and in plasma amino acids. In the phase of increased protein catabolism, we saw a plasma amino acid pattern in keeping with the existing metabolic situation. The need for BCAA diminishes when the hypercatabolic state disappears.

Perinatal prevalence of B hepatitis markers.

The present investigation describes the prevalence of markers detected in immunoenzymatic methods, for infection by the hepatitis B virus in sera of mothers and newborn umbilical cord blood in Merida, Venezuela. The sample population was composed of 500 mothers who attended the Obstetrics Department, University Hospital of los Andes, for their delivery between May and October 1990. The global prevalence figure of 11.8% showed a balanced distribution for surface antigen and its antibody. Prevalence for the urban area was 13.49% (RR = 1.49) and 11.80% for mothers from the rural zones (RR = 0.67), 95%, IC 0.63 to 1.9). A statistical difference was found between mothers with two or more live children (14 cases) and those with one or no children (7 cases) for anti-HBs (X2 = 7.62, p < 0.05, RR = 1.43, CI 0.47 to 2.86). Mothers with a history of several sexual partners showed a prevalence of 18.0%, RR = 1.5, CI 0.58 to 2.44, while those who were students, 18.3%, RR = 1.64, CI 0.94 to 2.5. These data may be indicating that sexual transmission mechanisms are of utmost importance, yet more precise investigations are required to confirm this hypothesis. Blood samples from umbilical cord were all negative for surface antigen.

Prospective study on the efficacy of branched-chain amino acids in septic patients.

The metabolic response to sepsis is characterized by increased proteolysis and gluconeogenesis, reduced protein synthesis, and negative nitrogen balance. The effects of a solution with a high proportion of branched-chain amino acids (BCAA) on the nutritional state of septic patients were evaluated. Eighty patients with peritonitis were divided into two groups of 40 patients; group 1 was administered a solution with 22.5% BCAA and group 2 with 45% BCAA. The following parameters were evaluated: anthropometrics, creatinine/height index, urinary 3-methylhistidine, nitrogen balance, stress index, albumin, prealbumin, transferrin, retinol binding protein, lymphocytes, delayed cutaneous sensitivity tests, studies of hepatic function, and plasma aminogram. In group 2 a more positive nitrogen balance, a greater drop in the stress index, a rise in plasma prealbumin and retinol binding protein levels, an increase in the creatinine/height index, and a more marked fall in the urinary excretion of 3-methylhistidine were found. When solutions with a high BCAA content were administered, there was an increase in the plasma concentrations of these amino acids in the BCAA/aromatic amino acid quotient and a decrease in the aromatic amino acids. Plasma concentrations of leucine and valine achieved very high, potentially toxic, levels at 15 days when solutions with high BCAA content were used. It is concluded that solutions with BCAA are advisable for use in the septic patient in the increased protein catabolic phase, where positive nitrogen balance, a reduction in muscle protein catabolism, and faster recovery of muscle and visceral protein were obtained.