Lymphatic Malformations in Parkes Weber's Syndrome: Retrospective Review of 16 Cases in a Vascular Anomalies Center.

INTRODUCTION: Parkes Weber's syndrome (PWS) is a rare genetic disorder characterized by overgrowth and vascular malformations, primarily affecting the extremities. While PWS is known to be associated with arteriovenous and capillary malformations, the potential involvement of lymphatic malformations (LMs) has not been previously reported. The objective of this study is to investigate the presence of lymphatic anomalies in PWS patients and their role in the development of limb asymmetry. MATERIALS AND METHODS: This is a retrospective study of patients diagnosed with PWS in a Vascular Anomalies Center from 1994 to 2020. Clinical data were obtained from medical records including diagnostic imaging, lymphoscintigraphy, and genetic testing. The Institutional Review Board and Ethics Committee have approved this study. RESULTS: A total of 16 patients aged 18 interquartile range 14.7 years diagnosed with PWS were included (50% female). Six of the 16 patients with PWS had clinical and imaging data suggestive of LM (37.5%) and 3 of them had genetic variants in RASA1 (2/3) or KRAS (1/3). Limb asymmetry was greater in patients with isolated PWS (2.6 ± 0.8 cm) than in the PWS-lymphatic anomalies population (2 ± 0.7 cm), although not significant (p = 0.247). One in 6 patients with PWS-LM required amputation (16.6%) versus 1 in 10 in isolated PWS (10%). CONCLUSION: Lymphatic anomalies may be present in a significant number of patients with PWS and could have a role in limb asymmetry and outcomes. It is paramount to investigate their existence and distinguish them from true overgrowth.

Diferencias conceptuales y socioeconómicas de pobreza / Conceptual and socioeconomic differences on poverty

Existe hoy consenso en que la pobreza infantil es un fenómeno complejo y que su impacto sobre niños y niñas pone en juego el capital humano de nuestros países. Para cumplir con los derechos de los niños, niñas y adolescentes, es necesario erradicar tanto la pobreza infantil como la pobreza general, y resulta esencial incidir en los determinantes de la salud. Los datos son fundamentales para identificar a los niños menos favorecidos, pero también es posible que algunos de los menores con mayores riesgos no estén representados en las encuestas de hogares, porque viven en zonas alejadas o en familias y comunidades cuya presencia puede no estar registrada. Es posible que todos estos grupos sean invisibles para las estadísticas. Este artículo es una llamada a los profesionales de salud pública, pediatras y otros colectivos, para analizar y estudiar la repercusión de la pobreza en la población infantil y presionar así a las instituciones que deben actuar en favor de los niños y niñas vulnerables. En definitiva, hemos mejorado, pero queda todavía mucho por hacer. Sería intolerable que hubiese un niño que muere de hambre, pero es que no solo hay uno, sino que muere uno cada cuatro segundos. Los recursos destinados a la infancia siguen siendo considerados un coste, cuando en realidad son la mejor inversión de futuro (AU)

There is today the consensus that child poverty is a complex phenomenon and that its impact on boys and girls puts at stake the human capital of our countries. To comply with the rights of children and adolescents, it is necessary to eradicate both, child and general poverty, and it is essential to influence into the determinants of health. Data are essential to identify the most disadvantaged children, yet, it is possible that some of the children with a higher risk of poverty are not represented in household surveys due to the fact that these groups tend to live in remote areas or in families and communities whose presence may not be registered in the official records. Hence, it is possible that all these groups are invisible to the statistics. This article is a call to public health professionals, paediatricians and other groups, to analyze and study the impact of poverty among child population and put pressure to the institutions that must act in favour of vulnerable groups such as children. In short, we have improved, however, there is still much to be done. It would be intolerable to have a child who dies of hunger, but there is not only one, there dies one every 4 seconds. Resources for children are still considered as a cost; nevertheless, the reality is that they are the best investment for the future (AU)

Revisión de las intoxicaciones graves por insecticidas organofosforados atendidas en un período de 11 años (1996-2006) / Review of severe organophosphate poisonings over a period of 11 years (1996-2006)

Objetivo: Revisar las intoxicaciones por organofosforados (OF) en un período de 11años atendidas en nuestro hospital que requirieron ingreso de 7 días o más. Método: Estudio retrospectivo descriptivo de pacientes intoxicados por insecticidas OF atendidos entre 1996 y 2006 con una estancia hospitalaria igual o mayor de 7 días. Se analizan las siguientes variables: la edad, el sexo, el tipo de producto, el destino del ingreso y la duración de las estancias hospitalarias que generaron, el hábitat de residencia(rural o urbano), la causa de la intoxicación, la sintomatología clínica, las medidas terapéuticas aplicadas, la presencia de antecedentes psiquiátricos y las determinaciones seriadas de colinesterasas sérica. Resultados: Se han incluido 8 pacientes, el 50% de los cuales eran hombres, con una edad media de 49 años. El producto un OF puro (50%), un OF más herbicida (25%) y un OF más carbamato (25%). La estancia media hospitalaria fue de 40 días y en los 6pacientes que requirieron unidad de cuidados intensivos (UCI) su estancia en ella fue de 23 días. Cinco casos procedían del medio rural (62,5%) y 3 del urbano (37,5%), yen 5 casos (62,5%) exitió intención suicida. Todos los pacientes presentaron síndrome colinérgico, el 25% síndrome muscarínico leve el 75% sintomatología muscarínica, nicotínicay central. En el 50% de casos se produjo un síndrome intermedio y en el 50%hubo recidiva colinérgica. Hubo hipotermia severa en 2 casos e insuficiencia respiratoria en 6 pacientes, los cuales requirieron intubación orotraqueal. Se realizó descontaminación gástrica en 6 casos, en 2 se administró el carbón sin lavado previo, en 5 la atropina,en 4 la pralidoxima y en 1 el carbón activado y la hemofiltración. La colinesterasasérica fue determinada en 6 casos. Conclusión: Las intoxicaciones graves por OF presentan una gran riqueza sintomática, la cual es mayor cuando las medidas iniciales adoptadas no son enérgicas y/o si se produce una retirada precoz del tratamiento (AU)

Objective: To review all the organophosphate poisonings (OP) over a 11-year period which required at least seven days of admission at our hospital. Methods: Descriptive retrospective study of patients with OP attended at the hospital from 1996 to 2006. The variables age, sex, type of poisonous compound, destination at admission, length of stay, environment (rural or urban), cause of poisoning, clinical symptoms, therapeutic measures, acetyl cholinesterase measurement, and history of psychiatric disorders were assessed. Results: Eight patients were included, mean age 49 years (range: 26-65), 50% female. Poisonous compound were pure OP (50%), OP plus herbicide (25%) and OP plus carbamate (25%). Mean hospital stay was 40,5 days. Mean stay in the ICU in 6 patients who required intensive care was 23 days. Five (63.5%) patients were from rural origin and 3 (27.5%) were urban cases. Five cases (62.5%) were suicide attempts, 2 (25%) were accidents and the reason was not clear in one case. 100% presented with cholinergic syndrome, 2 cases (25%) mild muscarinic syndrome and 6 cases (75%) muscarinic, nicotinic and central symptoms. Four cases (50%) presented intermediate syndrome and 4 cases relapse of cholinergic symptoms. Severe hypothermia was present in 2 cases. Respiratory insufficiency was seen in 6 patients, which required orotracheal intubation. Gastrointestinal decontamination was performed in 6 cases. Two patients received activated charcoal without lavage. Atropine was usedin 5 cases (62.5%) and pralidoxime in 4. Hemoperfusion with activated carbon and hemofiltration was used inone case. Serum cholinesterase activity was measured in 6 cases. Conclusion: Severe organophosphate poisonings has multiple symptoms. If general measures adopted are not enough and/or treatment is withdrawn early they can increase significantly (AU)

Método combinado y su aplicación a deportistas de alta competición / Applicability of the combined method in high-level athletes

La proporcionalidad ha tenido poca aplicabilidadpara el deportista, debido a que los datos obtenidosse alejan bastante del ideal del deportista.El método del Phantom se ha visto superado porun nuevo enfoque antropométrico basado en la estadísticabayesiana. Éste modelo se ha denominadoMétodo Combinado que nos permite afinar laproporcionalidad antropométrica. Hemos realizadoun estudio descriptivo con 3176 deportistas dealta competición, todos ellos pertenecientes a loslistados de élite de la Generalitat Valenciana, conla finalidad de marcar unos valores de referenciapara los atletas de alto nivel de nuestro país. Se hacalculado la proporcionalidad según el métodotradicional del Phantom de Ross y según el métodocombinado de Lentini para un futbolista de 2º Ay para una tenista de nivel WTA.Resultados: La tipificación Z combinada, basedel método combinado, refleja fielmente la informacióncontenida en la muestra. Una característicaimportante del método combinado es su fácilimplementación y la posibilidad que brinda al investigador,gracias al modelo estadístico Bayesiano,de combinar fuentes independientes de información.Dado que las muestras para combinarcon la base del Phantom son específicas, se puedentener valores ideales de cada disciplina deportivay de cada país. Es necesario encontrar los valoresde referencia para la población Olímpica.Conclusión: El método de proporcionalidadcombinado nos parece más útil que la proporcionalidaddel Phantom. Es recomendable utilizar elmétodo combinado en deportistas de alto rendimiento

The proportionality always had little applicabilityfor the sportsman. The method of the Phantomhas been by a new approach based on the Bayesiandata analysis. This model is called CombinedMethod. We have performed a descriptive study on3,176 high-level athletes, included in the lists ofelite athletes of the Generalitat Valenciana, withthe purpose of setting reference values for Spanishhigh-level athletes.The proportionality has been calculated accordingto the traditional method of the Phantom of Ross and according to the combined method ofLentini for a football player of 2º A and for a tennisplayer of WTA level.Results: Is the combined tipification of Z, basisof the combined method, faithfully reflects the informationcontained in the sample. An importantcharacteristic of the combined method is its easyimplementation and the possibility that the Bayesiandata analysis offers to the investigator, ofcombining independent sources of information.Since the samples to combine with the base of thePhantom are specific, ideal values for every sportsdiscipline and for every country. It is necessary tofind the values for reference for the Olympic population.Conclusion: The combined method of proportionalityseems to be more useful than the proportionalityof the Phantom

Formas farmacéuticas orales de liberación modificada / Modified release oral dosage forms

Se efectúa una revisión de las formas farmacéuticas de liberación modificada para administración oral, considerando los siguientes aspectos: concepto, factores que influyen en la liberación del fármaco, ventajas, desventajas y tipos. Finalmente, se exponen las ventajas e inconvenientes de las formas farmacéuticas de liberación modificada de uso oral multiparticulares frente a las unitarias (AU)

Contribution of prothrombin 20210A allele and factor V Leiden mutation to thrombosis risk in thrombophilic families with other hemostatic deficiencies.

BACKGROUND AND OBJECTIVES: The aims of this study were to compare the lifetime probability of developing thrombosis in 722 relatives of 132 thrombophilic families of symptomatic probands with recognized thrombophilic defects and to determine the prevalence of the factor V Leiden (FVL) mutation and the 20210A allele of the prothrombin gene (PT20210A) in these families. DESIGN AND METHODS: The study included 722 members belonging to 132 unrelated families. The propositi were patients who had been referred to our Thrombosis Unit. The families were selected through a symptomatic proband. Once a patient with a deficiency or mutation was identified, family members were screened for the same defect. RESULTS: The prevalence of FVL and PT20210A in families with other thrombophilic defects was higher than expected. Compared with non-deficient individuals, the risk of venous thrombosis was increased in subjects with antithrombin (AT), protein S (PS) and protein C (PC) deficiencies, and in carriers of FVL and PT20210A mutations. The risk of thrombosis was significantly increased for individuals with combined genetic defects (PC-FVL, PS-FVL, PS-PT20210A and FVL-PT20210A). The ages at the time of 50% thrombosis-free survival were as follows: 34 years for AT deficiency, (19 years with FVL, 21 years with PT20210A), 62 years for PC deficiency (33 years with FVL, 44 years with PT20210A), 37 years for PS deficiency (24 years with FVL, 36 years with PT20210A), 50 years for the FVL mutation (52 years with PT20210A), and 65 years for the PT20210A mutation. As for clinical characteristics, no differences were observed except for the higher frequency of oral contraceptive-related thrombosis in women who were carriers of PT20210A or FVL. INTERPRETATION AND CONCLUSIONS: Based on these results, screening for FVL and PT20210A mutation is recommended in patients with other thrombophilic defects. To the best of our knowledge, this is the first family study, including the PT20210A mutation, that compares genetic risk factors for thrombosis and the lifelong probability of developing thrombosis.

Genetic susceptibility to thrombosis and its relationship to physiological risk factors: the GAIT study. Genetic Analysis of Idiopathic Thrombophilia.

Although there are a number of well-characterized genetic defects that lead to increased risk of thrombosis, little information is available on the relative importance of genetic factors in thrombosis risk in the general population. We performed a family-based study of the genetics of thrombosis in the Spanish population to assess the heritability of thrombosis and to identify the joint actions of genes on thrombosis risk and related quantitative hemostasis phenotypes. We examined 398 individuals in 21 extended pedigrees. Twelve pedigrees were ascertained through a proband with idiopathic thrombosis, and the remaining pedigrees were randomly ascertained. The heritability of thrombosis liability and the genetic correlations between thrombosis and each of the quantitative risk factors were estimated by means of a novel variance component method that used a multivariate threshold model. More than 60% of the variation in susceptibility to common thrombosis is attributable to genetic factors. Several quantitative risk factors exhibited significant genetic correlations with thrombosis, indicating that some of the genes that influence quantitative variation in these physiological correlates also influence the risk of thrombosis. Traits that exhibited significant genetic correlations with thrombosis included levels of several coagulation factors (factors VII, VIII, IX, XI, XII, and von Willebrand), tissue plasminogen activator, homocysteine, and the activated protein C ratio. This is the first study that quantifies the genetic component of susceptibility to common thrombosis. The high heritability of thrombosis risk and the significant genetic correlations between thrombosis and related risk factors suggest that the exploitation of correlated quantitative phenotypes will aid the search for susceptibility genes.

Respirar sin problemas. El yoga, una técnica eficaz para los enfermos con asma / Breathing without difficulty... yoga as an effective technique for asthma patients

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Emergence and dissemination of quinolone-resistant Escherichia coli in the community.

We studied the evolution of resistance to quinolones in Escherichia coli from 1992 to 1997 in Barcelona, Spain. An increasing proportion of quinolone-resistant E. coli (QREC) infections was observed. QREC strains were more common in patients with nosocomial infections but also increased in patients with community-acquired infections (9% in 1992 to 17% in 1996). Seventy (12%) of 572 episodes of E. coli bacteremia were due to QREC. Factors significantly associated with QREC bacteremia were the presence of underlying disease, recent exposure to antibiotics, and bacteremia of unknown origin. In the multivariate analysis, only prior exposure to antimicrobial agents (P < 0.001; odds ratio [OR] = 2), specifically, to quinolones (P < 0. 001; OR = 14), and the presence of a urinary catheter (P < 0.001; OR = 2) were significantly associated with QREC bacteremia. Among 16 QREC isolates from cultures of blood of community origin selected at random, 13 different pulsed-field gel electrophoresis patterns were recognized, showing the genetic diversity of these isolates and in turn indicating the independent emergence of QREC in the community. The prevalence of QREC in the feces of healthy people was unexpectedly high (24% in adults and 26% in children). A survey of the prevalence of QREC of avian and porcine origin revealed a very high proportion of QREC in animal feces (up to 90% of chickens harbored QREC). The high prevalence of QREC in the stools of healthy humans in our area could be linked to the high prevalence of resistant isolates in poultry and pork.

Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism.

BACKGROUND AND OBJECTIVE: A new genetic risk factor for venous thromboembolism has recently been described which involves a G to A transition at position 20210 in the 3' untranslated region of the prothrombin gene. To date, only a few homozygotes for this mutation have been reported and in most of cases, they suffered from thrombotic disease. Here, we describe a pedigree including both heterozygous and homozygous subjects for prothrombin (PT) 20210 A. DESIGN AND METHODS: This family was recruited in 1996 as part of our GAIT (Genetic Analysis of Idiopathic Thrombophilia) project. To qualify for the GAIT study, a pedigree was required to have at least 10 living individuals in three or more generations (i.e. extended pedigree). The pedigrees were selected through probands with idiopathic thrombophilia. A complete set of plasma and DNA determinations related to hemostasis was performed on this family. RESULTS: The plasma studies yielded normal results in all of the individuals. The family members who had a history of thromboembolism were heterozygous carriers of the PT 20210 A variant. In addition, 4 relatives who were heterozygous, and two who were homozygous for this A allele, failed to show clinical manifestations. These two homozygotes were 51 and 19 years old. INTERPRETATION AND CONCLUSIONS: This case exemplifies the complexity of thrombotic disease since individuals homozygous for a mutant gene do not exhibit symptoms while heterozygous individuals often do exhibit the disease. This case suggests that the new genetic risk factor for thrombosis (i.e. PT 20210 A) may not be as strong as most of the previously described genetic risk factors.

The prothrombin 20210A allele is the most prevalent genetic risk factor for venous thromboembolism in the Spanish population.

We investigated the prevalence of the new recently reported mutation in the prothrombin gene (20210 A) in a sample of 116 unrelated patients with venous thromboembolism. We found 20 heterozygous carriers (17.2%, CI 95% 10.4-21.1). In comparison, we observed 13 carriers among 201 healthy unmatched controls (6.5%, CI 3.5-10.8). The 20210 A mutation seems to increase the risk of venous thrombosis 3-fold (odds ratio 3.1, 95% CI 1.4-6.6). Considering only patients with a first event (n = 62) the OR was 2.0 (p = 0.18, NS) while those with recurrent events (n = 54) showed an OR of 5.9 (95% CI 2.5-14.4). A majority of heterozygous patients (55%) presented a second thrombophilic factor and 60% of affected females had their first event before 30 years of age, while on oral contraceptive treatment. The prevalence found in this study for healthy people is the highest reported to date. The 20210 A variant appears to be the most prevalent genetic risk factor among patients with thrombosis in our geographical area.

Impact of colloidal bismuth subnitrate in the eradication rates of Helicobacter pylori infection-associated duodenal ulcer using a short treatment regimen with omeprazole and clarithromycin: a randomized study.

UNLABELLED: Recent trials have shown that duodenal ulcers treated by H2-blockers heal faster if Helicobacter pylori is eradicated concurrently. OBJECTIVES: To evaluate the efficacy of a short treatment regimen in H. pylori eradication and ulcer healing and to assess the impact of colloidal bismuth subnitrate (CBS) in H. pylori eradication rate. METHODS: Sixty-one patients with H. pylori-associated duodenal ulcer were randomized in two short treatment groups. Group A patients (31) were given omeprazole 20 mg b.i.d. x 8 days. Clarithromycin (500 mg, b.i.d.) and CBS (120 mg, q.i.d.) were added 24 h after starting omeprazole and were given for 7 days. Group B patients (30) were treated as group A patients but without CBS. Endoscopies were performed at entry and 4 wk after the end of treatment. Presence of H. pylori was assessed at each endoscopy by urease test, and biopsy specimens were examined for histological evidence of gastritis and by Gram stain and culture for H. pylori infection. No patient received follow-up treatment. RESULTS: H. pylori eradication rates were achieved in 25/31 (80.6%) group A patients and in 15/30 (50%) in group B patients (p = 0.012). Duodenal ulcer healing was documented in 30/31 (96.8%) patients in group A and in 25/30 (83%) patients in group B. CONCLUSIONS: The addition of CBS to the double therapy with omeprazole and clarithromycin substantially improves the eradication rate of H. pylori. Short therapy with omeprazole 20 mg/b.i.d., clarithromycin 500 mg/b.i.d., and CBS 120 mg/q.i.d. is a safe, well tolerated combination that achieves a 80.6% eradication rate of H. pylori and duodenal ulcer healing rates as good as those achieved by omeprazole 20 mg/d when given for 4 wk.

Abnormal polymerization and normal binding of plasminogen and t-PA in three new dysfibrinogenaemias: Barcelona III and IV (gamma Arg 275-->His) and Villajoyosa (gamma Arg 275-->Cys).

Congenital dysfibrinogenaemia was found in three non-related patients. None of them had a haemorrhagic tendency, but one gave a thrombotic history. When their fibrinogens were treated with thrombin, they released fibrinopeptides A and B at normal rates, but the resultant fibrin monomers produced exhibited abnormal polymerization curves. This abnormality was more marked in fibrinogen Villajoyosa than in Barcelonas III and IV. Plasminogen and t-PA binding to fibrin monomers from the three dysfibrinogenaemias was similar to that of normal fibrin monomers. The gamma chain was purified from the three fibrinogens, treated with CNBr and the peptides produced were separated by reversed-phase HPLC. Chromatograms of digested fibrinogens showed an abnormal peak that was not present in the normal gamma chain. Amino acid sequence analysis of abnormal peptides and genomic DNA sequencing revealed that the gamma arginine 275 had been changed in the three fibrinogens; in two cases it was substituted by histidine, and in the third by cysteine. The altered properties observed in fibrin monomers produced from fibrinogen with the gamma Arg 275-->His or gamma Arg 275-->Cys substitution, suggests that this amino acid is important in maintaining the protein structure necessary for normal polymerization, but is not essential for the binding of t-PA or plasminogen to fibrin. It also suggests that the change Arg-->Cys produces more severe alterations in the functions of fibrinogen than the substitution Arg-->His.

[Spontaneous mononucleosis caused by cytomegalovirus in the immunocompetent adult]. / Mononucleosis espontánea por citomegalovirus en el adulto inmunocompetente.

BACKGROUND: The first Spanish series of spontaneous infectious mononucleosis (IM) by cytomegalovirus (CMV) in immunocompetent adults is reported. METHODS: Patients whose clinical manifestations, physical exam, analysis and serology were compatible with acute CMV infection from 1984 to 1993 were retrospectively reviewed. RESULTS: Thirty patients with a mean age of 36 years fulfilled the diagnostic criteria. All presented fever, alone or associated with other symptoms, with a mean duration of 18 days, which persisted over 3 weeks in 36%. Physical exam showed lymph node enlargement (50%), hepatomegaly (33%), splenomegaly (20%) and was normal in 8 patients (26%). Mean leukocyte count was 9.75 x 10(9) (+/- 4.63 x 10(9) with more than 50% lymphomonocytic cells in 22 patients (76%) and reactive lymphocytes, principally from the outset, although this was observed on days 2 and 60 in 11 cases (36%). LDH, ASAT and ALAT were moderately elevated and ESR was normal. Serologic diagnosis was established from IgM (13%) seroconversion or positive IgM in the two samples with IgG four-fold increase (23%), as well as the presence of positive IgM and invariable high IgG in both determinations (26%) or all IgM positive titers in a single sample (36%). CONCLUSIONS: Infectious mononucleosis by cytomegalovirus is an infrequently diagnosed disease which should be considered in any young patient with fever despite a little demonstrative initial physical exam absence of atypical lymphocytes or a lack of diagnostic serology.

Fibrinogen Barcelona II: a new case of A alpha 16 Arg----His substitution.

We describe a new congenital dysfibrinogenemia: fibrinogen Barcelona II in 8 members of a family with no major bleeding or thrombotic tendency. Incubation of this fibrinogen with thrombin at low concentration releases half of the expected normal fibrinopeptide A (FPA) and with some delay it releases an abnormal FPA. Abnormal FPA was purified and sequenced and showed a change in the normal amino acid sequence: arginine in position 16 has been substituted by a histidine. This is another case of dysfibrinogenemia in which A alpha 16 Arg----His has been identified as the cause of abnormal behavior of the fibrinogen molecule.

[Pheochromocytoma: review of the preoperative treatment and anesthesiologic technic in 14 patients]. / Feocromocitoma: revisión del tratamiento preoperatorio y técnica anestésica en 14 pacientes.

Fourteen patients operated for pheochromocytoma from 1978 to 1988 are reviewed. The preoperative treatment with adrenergic blockers is analyzed: phenoxybenzamine with final doses of 10-140 mg/day (mean 55.4 mg/day) and propranolol with doses of 40-80 mg/day (mean 50 mg/day). The premedications and anesthetic techniques are compared, the use of droperidol being discouraged because of the development of hypertensive paroxysms both preoperatively and postoperatively. The new benzodiazepines are offered as an alternative. The treatment of hypertensive paroxysms with phentolamine with total doses of 2.5-35 mg and that of peroperative arrhythmias with propranolol with total doses of 1-6 mg are reported. The recently described therapeutic approaches are also discussed.