Evaluation of the burden of migraine on the partner's lifestyle.

BACKGROUND: Despite the number of research studies regarding the individual burden of migraine, few studies have examined its impact on the patients' partners. We aim to assess migraine effects on the patients' partners on sentimental relationship, children relationship, friendship, and work, as well as the caregiver burden, anxiety and/or depression. METHODS: A cross-sectional observational study was conducted through an online survey of partners of patients with migraine followed-up in 5 Headache Units. Questions about the 4 areas of interest and 2 scales (Hospital Anxiety and Depression Scale and Zarit scale) were included. Scores were compared against the population prevalence. RESULTS: One hundred and fifty-five answers were analysed. Among the patient's partners 135/155 (87.1%) were men, with a mean age of 45.6 ± 10.1 years. Migraine's main effects on partners were observed in the sentimental relationship and items concerning children and friendships, with a minor impact at work. Partners showed a moderate burden (12/155 = 7.7% [4.1%-13.1%]), and a higher moderate-severe anxiety rate (23/155 = 14.8% [9.6%-21.4%]), and similar depression rate (5/155 = 3.2% [1.1%-7.3%]) compared to the National Health Survey. CONCLUSIONS: The burden of migraine impacts the partners' personal relationship, childcare, friendship and work. Moreover, certain migraine partners showed a moderate burden according to Zarit scale and higher anxiety levels than the Spanish population.

Colocación de stent y traqueobroncoplastia en el síndrome de Mounier-Kuhn: reporte de un caso / Stent placement and tracheobronchoplasty in Mounier-Kuhn syndrome: a case report

Se presenta el caso de un paciente diagnosticado a raíz de cuadros de disnea recurrentes de traqueobroncomegalia o Síndrome de Mounier-Kunh, patología congénita, muy infrecuente, clasificada como una clase de traqueomalacia del tipo cartilaginosa, cursando por ello con un colapso dinámico de la vía aérea causante de los episodios de disnea. Otros síntomas frecuentemente observados son la tos no productiva, retención de secreciones o infecciones recurrentes.El paciente es tratado inicialmente de forma conservadora mediante la colocación de una prótesis intratraqueal de silicona (Stent Dumon) en forma de "Y" que permite, de forma provisional, la estabilización de la vía aérea y mejoría de su calidad de vida. Posteriormente, se le practica un tratamiento quirúrgico definitivo o traqueobroncoplastia, que reconfigura la estructura traqueal evitando el colapso espiratorio y permitiendo la retirada del stent intratraqueal

We present the case of a patient diagnosed based on recurrent dyspnea from tracheobronchomegaly or Mounier-Kuhn syndrome, a very rare congenital disease classified as a type of cartilaginous tracheomalacia, leading to a dynamic collapse of the airway causing episodes of dyspnea. Other frequently observed symptoms are nonproductive cough, secretion retention and recurrent infections.The patient is initially treated conservatively by placing a Y-shaped silicone intratracheal prosthesis (Dumon stent) which provisionally allows for airway stabilization and improved quality of life. Later, the patient undergoes a definitive surgical treatment or tracheobronchoplasty, which reconfigures the tracheal structure, avoiding expiratory collapse and allowing the intratracheal stent to be removed

Plasma cytokines as potential biomarkers of kidney damage in patients with systemic lupus erythematosus.

BACKGROUND: Systemic lupus erythematosus is a heterogeneous chronic inflammatory autoimmune disorder characterized by an exacerbated expression of cytokines and chemokines in different tissues and organs. Renal involvement is a significant contributor to the morbidity and mortality of systemic lupus erythematosus, and its diagnosis is based on renal biopsy, an invasive procedure with a high risk of complications. Therefore, the development of alternative, non-invasive diagnostic tests for kidney disease in patients with systemic lupus erythematosus is a priority. AIM: To evaluate the plasma levels of a panel of cytokines and chemokines using multiplex xMAP technology in a cohort of Colombian patients with active and inactive systemic lupus erythematosus, and to evaluate their potential as biomarkers of renal involvement. RESULTS: Plasma from 40 systemic lupus erythematosus non-nephritis patients and 80 lupus nephritis patients with different levels of renal involvement were analyzed for 39 cytokines using Luminex xMAP technology. Lupus nephritis patients had significantly increased plasma eotaxin, TNF-α, interleukin-17-α, interleukin-10, and interleukin-15 as compared to the systemic lupus erythematosus non-nephritis group. Macrophage-derived chemokine, growth regulated oncogene alpha, and epidermal growth factor were significantly elevated in systemic lupus erythematosus non-nephritis patients when compared to lupus nephritis individuals. Plasma eotaxin levels allowed a discrimination between systemic lupus erythematosus non-nephritis and lupus nephritis patients, for which we performed a receiver operating characteristic curve to confirm. We observed a correlation of eotaxin levels with active nephritis (Systemic Lupus Erythematosus Disease Activity Index). Our data indicate that circulating cytokines and chemokines could be considered good predictors of renal involvement in individuals with systemic lupus erythematosus.

Acquired angioedema with anti-C1-inhibitor autoantibodies during assisted reproduction techniques

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Comparative value of microscopy, serology and real time pcr in the diagnosis of asymptomatic canine Leishmania infantum infection

Se investigó la sensibilidad (SE) del examen citológico mediante microscopia óptica (MO) de improntas de bazo y linfonodo, de la prueba de anticuerpos ELISA (inmuno-ensayo ligado a enzima) y de la PCR (reacción en cadena de la polimerasa) a tiempo real (tr), para diagnosticar la infección asintomática por Leishmania infantum en 110 perros aparentemente sanos, del sureste de España. El porcentaje de perros positivos a MO, ELISA y PCRtr fue 2% (2/110), 27% (26/97) y 67% (39/58), respectivamente, aunque el porcentaje de PCR-positivos osciló entre 35-41% para cada tejido individualmente y 9% en sangre. La SE estimada (intervalos de confianza del 95%) de la MO en relación a la PCRtr y al ELISA fue 5% (0-12) y 8% (0-18), respectivamente. Estos resultados confirman que la mayoría de perros aparentemente sanos de una población endémica de L. infantum están infectados, que aproximadamente solo la tercera parte de éstos desarrolla anticuerpos frente al parásito y solo unos pocos tienen suficiente carga parasitaria en tejido linfoide como para ser detectada mediante MO. Consecuentemente, el grado de concordancia de la PCRtr, el ELISA y la MO en el diagnóstico de leishmaniosis canina asintomática es escaso (AU)

The sensitivity (SE) of cytological examination of spleen and lymphnode smears by optical microscopy (OM), antibody-ELISA (enzyme-linked immunosorbent assays) and real-time (rt) PCR (polymerase chain reaction), for diagnosing asymptomatic canine Leishmania infantum infection was investigated in 110 apparently healthy dogs from southeast Spain. The percentage of OM, ELISA and rtPCR positive dogs were 2% (2/110), 27% (26/97) y 67% (39/58), respectively, although the percentage of rtPCR-positive dogs were 35-41% in individual tissues and 9% in blood. The estimated SE (95% confidence interval) of OM relative to the rtPCR and ELISA tests was 5% (0-12) and 8% (0-18), respectively. Results confirm that most apparently healthy dogs from L. infantum endemic areas are infected, that approximately only one third of these infected dogs develop antibodies and that very few have parasite loads that are high enough to allow detection by OM. As a result, the degree of agreement between rtPCR, ELISA and OM for L. infantum diagnosis in subclinnically infected dogs is low (AU)

Pautas de prevención de defectos congénitos con especial referencia a los niveles primario y secundario. Guías de actuación preventiva desde la atención primaria / Guidelines for the prevention of congenital defects, particularly at primary and secondary level. Prevention guidelines from Primary Care

La prevención de defectos congénitos (DC) no difiere en esencia de la que se sigue para cualquier otra enfermedad. En el primer nivel, el de la prevención primaria, se trata de impedir que se produzca el trastorno. El segundo nivel se aplica cuando el DC ya se ha producido, y consiste en curar la enfermedad o, cuando ello no es posible, como en la mayoría de los DC, evitar que se agrave. Este nivel se basa en el diagnóstico precoz y correcto de la enfermedad, y en instaurar inmediatamente el tratamiento adecuado y las medidas correctoras o paliativas. El tercer nivel se instaura una vez que han fracasado los 2 anteriores y se centra en medidas que mejoren la autonomía y la calidad de vida del paciente (integración social y laboral de los afectados, supresión de barreras arquitectónicas, etc.). Por último, existe un «cuarto nivel de prevención» que consiste en evitar toda sobreactuación médica, en la que se someta al paciente a pruebas innecesarias que no sólo no le ayudan sino que, además, pueden generarle efectos adversos añadidos incluyendo problemas psíquicos. En este artículo se resumen las medidas más relevantes que se deberían implantar desde el colectivo de médicos de atención primaria, para conseguir todos los niveles de prevención de DC y, especialmente, de prevención primaria (AU)

There is essentially no difference in the prevention of congenital defects (CD) from that of any other disease. Primary prevention consists of preventing the causes that produce the disease. Secondary prevention is applied when the CD has already occurred, and consists of curing the disease, or when this is not possible, as in the majority of CD, to prevent it getting worse. This level is based on the early and correct diagnosis of the disease, and initiating immediate and appropriate treatment and corrective or palliative measures. The third level is started when the previous ones fail, and is focussed on measures that improve independence and quality of life (social and occupational integration of those affected, removal of architectural obstacles, etc.). Lastly, there is a “fourth level of prevention”, which consists of avoiding over-medication, in which the patient is subjected to unnecessary tests, which not only do not help the patient, but can also produce added adverse effects, including psychiatric problems. This article summarises the most important measures that Primary Care doctors should introduce to achieve all levels of CD prevention, and particularly primary prevention (AU)

Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis.

Thanatophoric dysplasia (TD) is a lethal form of short-limb skeletal dysplasia that is associated with macrocephaly, and variably cloverleaf skull. Two types of TD are clinically recognized, TD1 and TD2, mainly distinguished by their radiographic characteristics. The differences between the two are principally observed in the femur, which appears curved in TD1, while it remains straight but with a proximal medial spike in TD2, and are a less severe overall affectation in TD2. Both types of TD are caused by mutations in different functional domains of the FGFR3 gene. However, whereas several mutations in the different domains of FGFR3 cause TD1, the K650E mutation involving the change of a lysine to glutamic acid ("Lys650Glu") has been found in all TD2 cases to date. Here we describe a newborn infant with TD2 associated with brain defects that have either been infrequently observed (encephalocele) or not hitherto described (holoprosencephaly). Based on recent studies, we consider encephaloceles described in TD to be pseudoencephaloceles, since they are secondary to the intracranial pressure generated by severe hydrocephaly and to severe cranial structural anomalies. Finally, to analyze the mechanisms of holoprosencephaly observed in the case described here, we include a concise review on the current understanding of how FGFs and their receptors are expressed in the rostral signaling center (particularly Fgf8). In addition, we evaluated recent observations that FGF ligands and receptors (including FGFR3) act in concert to organize the whole telencephalon activity, rather than independently patterning different areas.

Ejemplos clínicos de alteraciones crípticas del ADN, y guías para sospechar que un niño pueda tener alguna alteración críptica o molecular / Examples of DNA cryptic alterations, and guidelines for suspecting a child may have cryptic genetic or molecular alterations

No siempre es posible establecer el diagnóstico de un recién nacido con defectos congénitos. En general esto se debe a varias causas fundamentales: a) porque el conjunto de manifestaciones clínicas que presentan son aún de causa desconocida; b) porque los síndromes que ya se conocen tienen una frecuencia tan baja que no son fáciles de reconocer cuando no se tiene experiencia previa; c) porque no existe especificidad alguna entre una causa y un defecto; d) porque algunos solo presentan rasgos dismórficos que solo con gran experiencia pueden ser evaluados, ya que la mayoría de esos rasgos se encuentran en la población general sana, y e) porque muchos de ellos son de aparición evolutiva siendo de apariencia normal al nacimiento. Sin embargo, hoy se sabe que algunos de estos síndromes son producidos por alteraciones debidas a pérdidas de porciones cromosómicas tan pequeñas que no se detectan por citogenética de alta resolución (son crípticas para estas técnicas) o a mutaciones conocidas de ciertos genes. Como muchos de estos niños van a ir presentando sus manifestaciones durante la infancia, van a ser atendidos por los médicos de atención primaria, por lo que es esencial que dispongan de unas pequeñas guías para su reconocimiento y su manejo adecuado. En este artículo se explican las diferentes formas de presentación, sus características, las técnicas con las que se pueden diagnosticar, así como los síntomas que pueden alertar sobre estos síndromes y forma de actuar. Porque de la identificación precoz depende mucho el pronóstico y la información a la familia (AU)

It is not always possible to establish the diagnosis of a newborn with congenital defects. In general, this is due to several main reasons: a) because the group of clinical signs that they show are still of an unknown cause; b) because the already known syndromes are such a low frequency that they are not easy to recognise when there is no previous experience; c) because there is no specificity between a cause and a defect; d) because some only present with dysmorphic characteristics that can only be assessed by someone with wide experience since the majority of these characteristics are found in the general healthy population; and e) because many of them appear over time, appearing normal at birth. However, it is now known that some of these syndromes are caused by changes due to the loss of chromosome portions so small that they are not detected by high resolution cytogenetics (they are cryptic for these techniques), or to known mutations in certain genes. As many of these children will present with their signs during childhood and are going to be seen by Primary Care doctors, it is essential that small guises are available to recognise them and manage them appropriately. This article explains the different forms of presentation, their technical characteristics by which they can be diagnosed, as well as the symptoms that may make us aware of these syndromes and how to act. The prognosis very much depends on early identification and information to the family (AU)

Comentario a «Insuficiencia renal aguda tras consumo de setas» / No disponible

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Fracaso renal agudo tras la ingestión de setas: síndrome orellánico / No disponible

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Application of matrix solid-phase dispersion to the determination of amitrole and urazole residues in apples by capillary electrophoresis with electrochemical detection.

A new method based on matrix solid-phase dispersion (MSPD) extraction was studied for the extraction of amitrole (3-amino-1,2,4-triazole), and its metabolite urazole (3,5-dihydroxy-1,2,4-triazole), in apple samples. The influence of experimental conditions on the yield of the extraction process and on the efficiency of the cleanup step was evaluated. Determination was carried out by capillary electrophoresis (CE) with electrochemical detection, demonstrating the compatibility between MSPD and CE techniques. The method has been successfully applied to different apple varieties. Recoveries in samples spiked at 1.6 and 1.7 microg g(-1) for amitrole and urazole were 88 and 82%, respectively. The limits of detection were 0.4 microg g(-1) for both compounds using electrochemical detection.

Obesity and the polycystic ovary syndrome.

The polycystic ovary syndrome (PCOS) is a mostly hyperandrogenic disorder and is possibly the most common endocrinopathy of premenopausal women. The primary defect in PCOS appears to be an exaggerated androgen synthesis and secretion by the ovaries and the adrenal glands. In a substantial proportion of PCOS patients, the primary defect in androgen secretion is triggered by factors such as the hyperinsulinism resulting from insulin resistance and/or the secretion of metabolically active substances by visceral adipose tissue, because these factors may facilitate androgen synthesis at the ovaries and the adrenals of predisposed women. The prevalence of obesity in PCOS patients is increased when compared to the general female population and, conversely, the prevalence of PCOS is increased in overweight and obese women when compared to their lean counterparts. Obesity exerts a major impact on the PCOS phenotype, particularly on the metabolic associations and complications of the syndrome. Among others, the presence obesity is clearly related to the infertility of PCOS, and increases the risk for the metabolic syndrome and its constellation of cardiovascular risk factors in these women. This review will summarize the pathophysiological mechanisms underlying the association of obesity and PCOS, the impact of obesity on the PCOS phenotype and on the association of PCOS with metabolic disorders and cardiovascular risk factors, and the new developments in the management of obese PCOS patients.

Estudio de supervivencia en tumores en estadio T3 / Study of survival in stage T3 tumors

OBJETIVOS: Analizar la supervivencia de los subgrupos de tumores englobados bajo la estadificación T3 (invasores de pared, de mediastino y de bronquio principal). Estudiar las causas que justifican las diferencias halladas. PACIENTES Y MÉTODO: Estudio descriptivo, longitudinal, retrospectivo. 70 pacientes operados y estadificados como T3 (N0,N1, N2) M0 entre octubre de 2001 y octubre de 2006. Análisis estadístico Kapplan Meier y regresión de Cox RESULTADOS: 70 pacientes intervenidos, y repartidos en 40(57,1%) tumores invasores de pared, 17 (24,2%) de pleura mediastínica o pericardio parietal y 13 (18,5%) de bronquio principal. La supervivencia global acumulada a los cinco años fue del 41%. El grupo de pared tuvo una supervivencia a los cinco años del 40,7%,el mediastínico del 20% y el de bronquio principal del 68,5%. No existieron diferencias significativas entre los tres subgrupos(p<11%), probablemente por el tamaño muestral, pero sí un claro indicio de distintos comportamientos .Tuvieron significación estadística como factores pronósticos de supervivencia las variables afectación ganglionar y cirugía completa/incompleta. No tuvieron significación estadística las variables tamaño tumoral y estirpe histológica. Los tumores invasores mediastínicos (los de peor pronóstico),presentaron un porcentaje de N2 y cirugías incompletas superior al resto (variables con significación estadística).CONCLUSIONES: Debemos mejorar el porcentaje de cirugías completas en tumores T3 mediastínicos. Además, en este subgrupo, la exploración previa del mediastino debe ser considerada especialmente. Tumores en estadío T3N0 y T3N1 no han presentado diferencias significativas de supervivencia. Estudios posteriores deberían confirmar si deben continuar estatificándose en grupos distintos (IIB y IIIA)

OBJECTIVES: To study health-related quality of life (HRQL)of patients receiving home mechanical ventilation (HMV) for different causes using a new specific questionnaire (SRI).METHODS: Observational transversal multicentre trial in which 5 hospitals participated. Patients enrolled were scheduled for one only visit, where sociodemographic and clinical data were recorded, and the SRI questionnaire was administered. Comparison of the SRI results between diagnostic groups was performed. RESULTS: One hundred and fifteen patients (33 thoracic cage, 37 obesity hypoventilation syndromes, 18 neuromuscular, 12 tuberculosis sequelae, and 15 chronic obstructive pulmonary disease) were included. Global HRQL evaluation was similar for all disease groups. However, patients with an obstructive component in the pulmonary function tests resulted to have a different punctuation in several scales of the questionnaire. Neuromuscular patients had a worse punctuation on PF scale (26 ± 29 vs. 46 ± 25; p = 0.006) and required HMV during more hours of the day than the other diagnostic categories (10.8 ± 5 hours vs.8.2 ± 2.5 hours; p = 0.046). CONCLUSIONS: Although SRI is similarly impaired inpatients receiving HMV, the differences found between the diagnostic groups set different profiles for patients with obstructive, restrictive o neuromuscular diseases (AU)

Bonding trends of thiosemicarbazones in mononuclear and dinuclear copper(I) complexes: syntheses, structures, and theoretical aspects.

Reactions of copper(I) halides with a series of thiosemicarbazone ligands (Htsc) in the presence of triphenylphosphine (Ph(3)P) in acetonitrile have yielded three types of complexes: (i) monomers, [CuX(eta1-S-Htsc)(Ph3P)2] [X, Htsc = I (1), Br (2), benzaldehyde thiosemicarbazone (Hbtsc); I (5), Br (6), Cl (7), pyridine-2-carbaldehyde thiosemicarbazone (Hpytsc)], (ii) halogen-bridged dimers, [Cu2(mu2-X)2(eta1-S-Htsc)2(Ph3P)2] [X, Htsc = Br (3), Hbtsc; I (8), furan-2-carbaldehyde thiosemicarbazone (Hftsc); I (11), thiophene-2-carbaldehyde thiosemicarbazone (Httsc)], and (iii) sulfur-bridged dimers, [Cu2X2(mu2-S-Htsc)2(Ph3P)2] [X, Htsc = Cl (4), Hbtsc; Br (9), Cl (10), pyrrole-2-carbaldehyde thiosemicarbazone (Hptsc); Br (12), Httsc]. All of these complexes have been characterized with the help of elemental analysis, IR, 1H, 13C, or 31P NMR spectroscopy, and X-ray crystallography (1-12). In all of the complexes, thiosemicarbazones are acting as neutral S-donor ligands in eta()S or mu2-S bonding modes. The Cu...Cu separations in the Cu(mu2-X)2Cu and Cu(mu2-S)2Cu cores lie in the ranges 2.981(1)-3.2247(6) and 2.813(1)-3.2329(8) Angstroms, respectively. The geometry around each Cu center in monomers and dimers may be treated as distorted tetrahedral. Ab initio density functional theory calculations on model monomeric and dimeric complexes of the simplest thiosemicarbazone [H2C=N-NH-C(S)-NH2, Htsc] have revealed that monomers and halogen-bridged dimers have similar stability and that sulfur-bridged dimers are stable only when halogen atoms are engaged in hydrogen bonding with the solvent of crystallization or H2O molecules.

Determination of amitrole and urazole in water samples by capillary zone electrophoresis using simultaneous UV and amperometrical detection.

In this paper, capillary zone electrophoresis with amperometric detection (CZE-AD) was first applied to the simultaneous separation and determination of amitrole and urazole in water samples. A simple end-column electrochemical detector was used in combination with a commercially available capillary electrophoresis instrument with UV detection. The effects of several important factors were investigated to find optimum conditions. A carbon disk electrode was used as working electrode. Separation and determination of these compounds in water samples were performed in 0.030 mol l(-1) acetate buffers at pH 4.5, 25 kV as separation voltage and the samples were introduced by hydrodynamic mode for 1.5 s. Most of the studies realized showed that the direct electrochemical detection is more sensitive and selective than UV detection. Under the optimum conditions, excellent linearity was observed between peak amperometric signal and analyte concentrations in the range of 0.19-1.35 mg l(-1) for amitrole and 0.20-1.62 mg l(-1) for urazole. The detection limits were 63 and 68 microg l(-1) for amitrole and urazole, respectively. The utility of this method was demonstrated by monitoring water samples, and the assay results were satisfactory. The detection limits using a previous preconcentration step for amitrole and urazole in spiked mineral water samples were 0.6 and 1.0 microg l(-1) for amitrole and urazole, respectively.