Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. / Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.

BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.

The extended law of corresponding states when attractions meet repulsions.

Short-range attractive colloids show well-defined phase behaviour in the absence of repulsions, and highly intriguing equilibrium gelation in the presence of long-range repulsions. We present the state diagram of short-range attractive colloids with repulsions that range from fully screened to intermediately ranged, i.e. longer-ranged than the attractions, but shorter ranged than the colloid size. We demonstrate that although the macroscopic phase behaviour does not change perceptibly, there is a dramatic increase of inhomogeneities once the repulsions become longer-ranged than the attractions. The interaction potentials are characterized with small angle neutron scattering, and used to renormalize the state diagram with the minimum in the interaction potential, min[U(r)], and with the reduced second virial coefficient, B2*. We find that the extended law of corresponding states captures the onset of phase separation for shorter ranged repulsions, but fails for longer ranged repulsions. Instead, for a given model of U(r), the transition from visually homogeneous fluid to phase separation and/or gelation can be rescaled with min[U(r)] over the full range of repulsions. Finally, we suggest a generic state diagram to describe the effect of repulsions on short-range attractive systems.

Self-Assembly and Formation of Chromonic Liquid Crystals from the Dyes Quinaldine Red Acetate and Pyronin Y.

The aqueous self-assembly behavior of the dyes Quinaldine red acetate and Pyronin Y in a wide range of concentrations is reported here for the first time. (1)H NMR spectroscopy, polarized-light optical microscopy, and small and wide X-ray scattering were used to get insight into molecular interactions, phase boundaries and aggregate structure. Quinaldine red acetate and Pyronin Y self-organize into unimolecular stacks driven by attractive aromatic interactions. At high concentrations, spatial correlation among the molecular stacks gives rise to nematic liquid crystals in both systems. Quinaldine red acetate additionally produces a rare chromonic O phase built of columnar aggregates with anisotropic cross-section ordered in a rectangular lattice. The O phase changes into a columnar lamellar structure as a result of a temperature-induced phase transition. Results open the possibility of finding chromonic liquid crystals in other commercially available dyes with a similar molecular structure. This would eventually expand the availability of these unique soft materials and thus introduce new applications for marketed dyes.

Characterizing nanoparticles in complex biological media and physiological fluids with depolarized dynamic light scattering.

Light scattering is one of the few techniques available to adequately characterize suspended nanoparticles (NPs) in real time and in situ. However, when it comes to NPs in multicomponent and optically complex aqueous matrices - such as biological media and physiological fluids - light scattering suffers from lack of selectivity, as distinguishing the relevant optical signals from the irrelevant ones is very challenging. We meet this challenge by building on depolarized scattering: Unwanted signals from the matrix are completely suppressed. This approach yields information with an unprecedented signal-to-noise ratio in favour of the NPs and NP-biomolecule corona complexes, which in turn opens the frontier to scattering-based studies addressing the behaviour of NPs in complex physiological/biological fluids.

Use of hydrophobically modified inulin for the preparation of polymethyl methacrylate/polybutyl acrylate latex particles using a semicontinuous reactor.

The seeded semicontinuous emulsion copolymerization of methyl methacrylate (MMA) and butyl acrylate (BuA) stabilized with a graft polymeric surfactant based on inulin, INUTEC SP1, as well as its mixture with sodium lauryl sulfate (SLS) is described. The mixture of SLS and Brij58 (alcohol ethoxylated) and the mixture of SLS and Pluronic P85 (block copolymer PEO-PPO-PEO) are also used as surfactant systems. The addition of methacrylic acid (MAA) or acrylic acid (AA) as comonomers is also studied. Previous results proved this inulin-derivative surfactant, INUTEC SP1, to be very effective on synthesizing latexes using a very low surfactant concentration. The kinetic features of the emulsion polymerization (instantaneous conversion and total conversion) were gravimetrically determined along the reactions. Latex dispersions were characterized by photon correlation spectroscopy (PCS) and transmission electron microscopy (TEM) to obtain the average particle size, the particle size distributions (PSDs) as well as the polydispersity index (PdI). The stability was determined by turbidimetry measurements and expressed in terms of critical coagulation concentration. The results showed that the use of the graft polymeric surfactant allowed obtaining highly stable nanoparticles, at low surfactant concentrations and high solid contents (up to 37 wt %). This is an improvement with respect to previous works, in which a mixture of the graft polymeric surfactant with another surfactant was required to obtain stable nanoparticles with low polydispersity, at high solid content. In the present work, low polydispersity was achieved using INUTEC as the only emulsifier, which was related to the absence of secondary nucleations. When a mixture of INUTEC SP1 and SLS is used, a wider PSD is obtained due to secondary nucleations. Replacing INUTEC SP1 by other nonionic surfactants such as Brij58 or Pluronic P85 leads to an increase of average particle size and wider PSD.

Recovery of ventricular function with a left ventricular axial pump in a patient with end-stage toxic cardiomyopathy not a candidate for heart transplantation: first experience in Spain.

BACKGROUND: Toxic cardiomyopathies are rare and the most frequent cause are anthracycline compounds. Early acute toxicity can be reversible, but at present the only effective therapy for late end-stage anthracycline cardiomyopathy seems to be a heart transplantation. Currently, this transplantation is contraindicated in cases of cancer, at least during the first 4 or 5 years. Recently, implantable axial pumps have shown good results and are used with increasing frequency as destination therapy. METHODS: We present a case of end-stage heart failure due to a toxic cardiomyopathy after a bilateral breast cancer treated with resection and chemotherapy (doxorubicin and trastuzumab). Ejection fraction was 23% with dobutamine. A left ventricular axial pump (Incor) was implanted. RESULTS: The immediate postoperative course was uneventful. The left ventricular function improved and on the fourth month the ejection fraction was 55%. On postoperative day 135, the pump was explanted. After 1.5 years, the patient is doing well, with an ejection fraction of 57%. CONCLUSION: This is the first application of an implantable axial pump in Spain. Although toxic cardiomyopathies are rare, in cases of late end-stage left ventricular failure and when the heart transplantation is contraindicated, the implantation of an axial pump can be the solution. The results in previous cases are unknown, although it is possible, as in our case.

Acute myocardial infarction with cardiogenic shock: treatment with mechanical circulatory assistance and heart transplantation.

UNLABELLED: The mortality of cardiogenic shock (CS) after an acute myocardial infarction (AMI) still remains high. Thrombolysis, PTCA or CABG, when possible, can improve the results, but when all the treatments fail death is almost certain. OBJECTIVE: We investigate the use of the mechanical circulatory assistance (MCA) and heart transplantation (HT) to improve the adverse results in this irreversible situation. METHODS: Among 11 patients with irreversible CS after an AMI we used a MCA (Abiomed BVS-5000). After improvement and hemodynamic stabilization, we performed heart transplantation in 7 patients of mean age 52 years (35-60) including two women. The MCA was univentricular in 7 patients and biventricular in 4. Mean duration of the MCA was 5 days (1-12). RESULTS: Three patients died during the MCA: two due to cerebrovascular accidents and one multiorgan failure. Weaning was possible in one patient. Among Seven transplanted patients one died due to sepsis. Seven (64%) patients are long-term survivors. CONCLUSION: When all the treatments have failed for CS after an AMI, MCA may be used as a bridge to heart transplantation in a select group of patients where the procedure is not contraindicated. The long-term results of 64% survivors in our experience is satisfactory.

Early complete recanalization in internal carotid artery embolism treated with high-dose t-PA: a sequential angiographic study in a novel model of embolism in rats.

Complete early recanalization rate of human internal carotid artery embolic occlusion treated with thrombolytic drugs is low. To study factors related with this difficulty to recanalize we have developed a novel model of rat ica embolism using a fragment of human embolus. In 50 male Wistar rats the ica was embolized through the external carotid artery with a fragment of an embolus obtained from a human embolectomy passed through a catheter of 0.8 mm diameter. Recanalization was assessed by sequential angiograms from 15 to 120 min after embolization. Reperfusion was classified according to TIMI grades. Emboli of either 1 (group 1) or 2 mm (group 2) in length were cut. In group 1, four groups of nine animals each were treated, 15 min after embolization, with i.v. t-PA at doses of 1 mg/kg, 10 mg/kg and 20 mg/kg or saline. In group 2 there was one control group of seven animals treated with saline and another of seven animals treated with 10 mg/kg t-PA. Complete recanalization (TIMI grade 3) within the first 30 min was present in two animals treated with 10 and 20 mg/kg. Complete recanalization within the first 60 min was present in 0% of controls and animals treated with 1 mg/kg and in 44% of the 10 and 20 mg/kg groups (P<0.05 in chi-square test). Incomplete recanalization (TIMI grades 0, 1 and 2) occurred in 33%. In group 2 total recanalization occurred in 1/7 controls and in 3/7 animals receiving 10 mg/kg of t-PA. Early (60 min) complete i.v. t-PA induced internal carotid artery embolic recanalization is low with standard doses and increases moderately when high doses are used. Further increases in the dose do not improve recanalization rate, which is not clearly influenced by embolus size. Complete recanalization within 30 min, the period after which infarction develops in the rat, is uncommon in our model.

[Vertigo as an atypical symptom of intraspinal cord tumor]. / Vértigo como síntoma atípico de un tumor intramedular.

Vertigo is an unpleasant sensation of movement of the subject or of his surroundings. There are many causes of vertigo. Traditionally these are divided into 'central' and 'peripheral'. It is unusual to find it as a symptom of myelopathy. We describe the case of a 67 year-old woman with no significant previous clinical history who complained of the sudden onset of vertigo a few hours previously, which worsened on turning her neck towards the left. On examination, the vertigo recurred on turning her neck to the left after a latent period of a few seconds together with the appearance of ipsilateral conjugated nystagmus, which gradually disappeared. On neurological examination, there was amyotrophy of both arms with weakness, considerably reduced reflexes, except for clonus of the left wrist. There was slight paraparesia with bilateral cutaneoplantar flexion and a level of sensitivity at C2-C3. The sensitivity disorder was more marked in the arms with a bilateral distribution approximately at C5-C7 affecting predominantly thermoanalgesia. Cervical MRI showed a mass consistent with ependymoma. This was removed surgically 2 weeks after admission. The findings of the intraoperative biopsy confirmed the radiological diagnosis. The vertigo improved one week after admission, although the patient died of pneumonia one month after operation. Despite the vertigo was an atypical symptom, it was the clue that led to the diagnosis. Hypotheses about the cause of vertigo are discussed.

Serum and urinary manganese levels in patients with Parkinson's disease.

To elucidate the possible role of manganese in the risk of developing Parkinson's disease (PD), we compared serum levels of manganese, and 24-h manganese excretion by urine in 29 PD patients and in 27 matched controls. We also measured chromium and cobalt in the same samples. All these values did not differ significantly between the groups, they were not influenced by antiparkinsonian drugs, and they did not correlate with age, age at onset and duration of the PD, scores of the Unified PD Rating Scale or the Hoehn & Yahr staging in the PD group. These results might suggest that serum levels and urinary excretion of manganese are apparently unrelated to the risk of developing PD.

Plasma levels of nitrates in patients with Parkinson's disease.

It has been suggested that nitric oxide (NO) could be implicated in the neuronal degeneration of substantia nigra compacta in patients with Parkinson's disease (PD). To ascertain the possible role of NO as risk factor for PD, we studied the plasma levels of nitrate (oxidation product that provides an indirect estimation of NO), in 68 PD patients and 68 matched-controls. The plasma levels of nitrate did not differ significantly between PD patient and control groups (44.5 +/- 2.46 and 44.8 +/- 2.67 mumol/l, respectively). They were not influenced by antiparkinsonian drug and they did not correlate with age at onset, duration, scores of the Unified Parkinson's Disease Rating scales and Hoehn and Yahr staging in the PD group. These data suggest that plasma levels of nitrate are apparently unrelated to the risk for PD.

Peripheral iron metabolism in patients with Parkinson's disease.

To elucidate the possible role of peripheral metabolism of iron in the risk for developing Parkinson's disease (PD), we compared serum levels of iron, transferrin and ferritin, and 24-h iron excretion in urine after a single intramuscular dose of 1 mg/kg desferrioxamine, in 68 PD patients and their spouses as the control group. All these values did not differ significantly between the groups, they were not influenced by antiparkinsonian therapy, and they did not correlate with age, age at onset and duration of the disease, scores of the Unified PD Rating Scale or the Hoehn and Yahr staging in the PD group, with the exception of the 24-h urinary iron excretion with the duration of the disease (r = 0.32, p < 0.05). These results suggest that peripheral metabolism of iron is apparently unrelated to the risk of developing PD.

[Yield of detection of Clostridium difficile toxin versus stool culture in the study of nosocomial diarrhea]. / Rentabilidad de la detección de toxina de Clostridium difficile frente a coprocultivo para el estudio de la diarrea nosocomial.

BACKGROUND: The aim of the study was to determine whether the detection of Clostridium difficile toxin in stools may be more profitable than conventional stool cultures for the etiologic study of nosocomial diarrhea and to analyze what risk factors favor the development of nosocomial diarrhea by C. difficile. METHODS: The presence of enteropathogens and A and B toxins of C. difficile were investigated (by monoclonal antibody enzymoimmunoassay) in stools of patients with nosocomial diarrhea. A series of patients simultaneously admitted without diarrhea were selected as the control group. RESULTS: During a 6 month period 92 patients with nosocomial diarrhea and 82 controls without diarrhea were studied. The C. difficile toxin was detected in 8 of these 174 patients (4.6%). Eight point seven percent of the nosocomial diarrheas were related with C. difficile while only 1% were due to an enteropathogen (Salmonella enteritidis). C. difficile toxin was not detected in any patient who did not have diarrhea. In comparison with the patients with diarrhea due to other causes, the patients with diarrhea by C. difficile had more frequently received antibiotics over the previous 7 days (57 vs 88%) and had been hospitalized for a longer time (> or = 7 days) (58 vs 88%) (p < 0.05). CONCLUSIONS: In the author's institution infection by Clostridium difficile is the most frequent cause of nosocomial infectious diarrhea, especially in patients admitted for a prolonged time or who receive antibiotics. The routine investigation of enteropathogens in the cases of nosocomial diarrhea does not seem justified while the detection of the A and B toxins of C. difficile may be more profitable.

[The effect of calcium channel blockers on myoclonus induced by DDT]. / Efecto de los antagonistas de los canales de calcio sobre las mioclonías inducidas por DDT.

Behaviour syndrome induced by P, p'-DDT in rats constitutes an experimental pattern of myoclonia whose neurochemical basis is not yet clear. In this paper, effects of some calcium canal antagonists (CCA) have been studied. Nicardipine, verapamil and diltiazem significantly reduce myoclonia intensity, whereas flunarizine and cinarizine (the two diphenylalkylamines) enhance it. Mechanisms involved are unknown and it is not possible to foresee the clinical usefulness of CCA in these changes.