Neurofibromatosis segmentaria: Comunicación de dos casos / Segmental Neurofibromatosis: A report of two cases

Resumen La neurofibromatosis (NF) segmentaria, actualmente llamada NF mosaico, es una variante rara de neurofibromatosis, sin afectación sistémica y limitada a un segmento corporal. Los pacientes no presentan historia familiar de enfermedad. El cuadro clínico se caracteriza por manchas café con leche, neurofibromas o ambos. Se comunican dos casos de niñas con NF segmentaria solo con cambios pigmentarios,sin alteraciones sistémicas.

Abstract True segmental neurofibromatosis is an uncommon variant of neurofibromatosis, without systemic involvementand limited to a body segment. Patients don´t have family history of disease. The manifestations arecharacterized by café au lait spots, neurofibromas or both. We report two cases of girls with segmental NF with pigmentary changesonly, without systemic alterations.

Rey-Osterrieth Complex Figure - copy and immediate recall (3 minutes): Normative data for Spanish-speaking pediatric populations.

OBJECTIVE: To generate normative data for the Rey-Osterrieth Complex Figure (ROCF) in Spanish-speaking pediatric populations. METHOD: The sample consisted of 4,373 healthy children from nine countries in Latin America (Chile, Cuba, Ecuador, Guatemala, Honduras, Mexico, Paraguay, Peru, and Puerto Rico) and Spain. Each participant was administered the ROCF as part of a larger neuropsychological battery. The ROCF copy and immediate recall (3 minutes) scores were normed using multiple linear regressions and standard deviations of residual values. Age, age2, sex, and mean level of parental education (MLPE) were included as predictors in the analyses. RESULTS: The final multiple linear regression models showed main effect for age on copy and immediate recall scores, such that scores increased linearly as a function of age. Age2 affected ROCF copy score for all countries, except Puerto Rico; and ROCF immediate recall scores for all countries, except Chile, Guatemala, Honduras, Paraguay, and Puerto Rico. Models indicated that children whose parent(s) had a MLPE >12 years obtained higher scores compared to children whose parent(s) had a MLPE≤12 years for Chile, Puerto Rico, and Spain in the ROCF copy, and Paraguay and Spain for the ROCF immediate recall. Sex affected ROCF copy and immediate recall score for Chile and Puerto Rico with girls scoring higher than boys. CONCLUSIONS: This is the largest Spanish-speaking pediatric normative study in the world, and it will allow neuropsychologists from these countries to have a more accurate approach to interpret the ROCF Test in pediatric populations.

Administración de metamizol, insuficiencia renal y constricción intrauterina del conducto arterioso. Una asociación poco conocida / Administration of metamizol, renal failure and intrauterine ductus arteriosus constriction. An uncommon association

El metamizol, o dipirona magnésica, es un antiinflamatorio no esteroideo (AINE) ampliamente utilizado en Europa como analgésico y antipirético. Como con la indometacina y el ibuprofeno, se han descrito casos de oligoamnios, insuficiencia renal y cierre intrauterino del conducto arterioso fetal después del uso de metamizol en el tercer trimestre de la gestación, aunque su asociación con estos efectos adversos es menos conocida que con otros AINE. En el presente artículo presentamos un caso de hidropesía fetal con oligoamnios y constricción intrauterinaductal, que cursó con insuficiencia renal e hipertensión pulmonar, en el hijo de una madre que había recibido metamizol en el contexto de una pielonefritis aguda. Asimismo, se discutirá la fisiopatología de esta entidad y se revisará la bibliografía científica existente sobre el tema(AU)

The metamizole or magnesium dipyrone is a nonsteroidal anti-inflammatory drugs (NSAIDs) widely used in Europe as an analgesic and antipyretic. As with indomethacin and ibuprofen cases of oligohydramnios, renal failure and intrauterine closure of ductus arteriosus after its use in the third trimester of pregnancy have been reported, although its association with these adverse effects is less well known than other NSAIDs. In this article we present a case of hydrops fetalis with oligohydramnios and intrauterine ductal constriction with pulmonary hypertension and renal failure in the child of a mother who had received metamizole in the context of an acute pyelonephritis. We also will discuss the pathophysiology of this entity and review the existing scientific literature on this topic(AU)

[Kawasaki disease: Diagnosis and treatment]. / Enfermedad de Kawasaki: diagnóstico y tratamiento.

INTRODUCTION: Kawasaki disease is the leading cause of acquired heart disease in children. In spite of the efficacy of intravenous immunoglobulin (IGIV), the absence of a specific diagnostic test and due to there being IGIV-refractory patients, Kawasaki disease is a major cause of coronary artery abnormalities (CAA). OBJECTIVES: To analyze the clinical and epidemiological characteristics of cases of Kawasaki disease, to evaluate the efficacy of treatments used and the CAA observed. METHODS: We retrospectively reviewed the medical records of children diagnosed with Kawasaki disease between January 2002 and December 2008 in a tertiary public Hospital in the South of Madrid. The diagnosis of Kawasaki disease was based on the clinical criteria proposed by the American Academy of Pediatrics in 2004. RESULTS: Twenty three children were identified. Median age was 26 months (range: 2 months-10 years). Nineteen children (82%) were younger than 5 years old. Fever and changes in the lips and oral cavity were present in all cases. Twenty-one patients (91%) received IGIV, all of them before the 10th day of disease. One child (4.7%) required the administration of more than one dose of IGIV, because persistence of fever. CAA was recorded in three patients [13.0%, (95% CI: 1-26%)], including a four month-old boy. All patients with CAA were treated with the recommended dose of IGIV, 2g/kg, between the 5th and 8th day of disease. CONCLUSIONS: Kawasaki disease was more common in children less than five years old. We observed a high rate of CAA in children with Kawasaki disease in spite of appropriate and timely treatment.

Malathion resistance in Aedes aegypti and Culex quinquefasciatus after its use in Aedes aegypti control programs.

The continued widespread use of malathion in Aedes aegypti control programs in Latin America has generated insecticide resistance to this chemical in Culex quinquefasciatus but not in Ae. aegypti. To determine the extent of this resistance, the susceptibility of Cx. quinquefasciatus and Ae. aegypti from several countries to malathion was evaluated. Bioassay results indicated that all Ae. aegypti strains evaluated from Cuba, Venezuela, Costa Rica, and Jamaica were susceptible to malathion in spite of the historical use of this insecticide in Ae. aegypti control programs in these countries. In contrast, a high level of resistance to this insecticide was found in Cx. quinquefasciatus from Venezuela, Colombia, Brazil, and Cuba. Synergist assays indicated that neither esterases nor mixed-function oxidases (MFOs) were involved as the resistance mechanism to malathion in any of the Ae. aegypti strains tested. In Cx. quinquefasciatus, synergist assays confirmed that esterases played an important role in malathion resistance but MFOs were not involved in causing malathion resistance in this species. Biochemical assays showed that both resistance mechanisms were present in the Ae. aegypti and Cx. quinquefasciatus populations. Acrylamide electrophoresis gels revealed that all Ae. aegypti strains had a strongly staining, clear band, named A4, and had a relative mobility (Rm) value of 0.7. Analysis if the results of this study suggested that malathion could continue to be used for the emergency control of Ae. aegypti, the mosquito vector for dengue and dengue hemorrhagic fever in the Americas, but that malathion is probably not effective for the control of adult Cx. quinquefasciatus in urban areas. Therefore, control operations should integrate nonorganophosphate insecticides such as pyrethroids for control of these 2 species found in the urban environment.

Role of surgery in thymic disorders.

Thymomas are relatively slow-growing neoplasms that should be considered malignant tumours. When treated in the early stages, however, they have an excellent prognosis for long-term survival. Surgery, radiation therapy and chemotherapy all play a role in the management of these neoplasms. Surgery is the treatment of choice in thymoma patients and has become an increasingly accepted procedure in the treatment of myasthenia gravis (MG) since 1936, when thymectomy was performed for this disease for the first time. Improvement in myasthenic symptoms is nearly always observed following thymectomy, but the rates of complete remission vary from 7% to 63%. We have studied the potential preoperative factors predicting the evolution of MG.

Aluminum-induced osteogenesis in osteopenic rats with normal renal function.

Previous studies have shown a different effect of aluminum (Al) on bone metabolism in animals with chronic renal failure and conversely, positive osteogenic effects in animals with normal renal function. The aim of this study was to evaluate the effect of aluminum on bone metabolism in osteopenic rats. We studied male Wistar rats with severe osteopenia induced by adding NH4Cl (2%) to the drinking water over a 6-month period. The rats were divided into two groups and followed for 4 months. The Aluminum group (G1) received AlC13 intraperitoneally (10 mg/kg/5 days/week) (n = 8); the Control group (G2) did not receive any treatment after stopping the administration of NH4Cl (n = 5). In all animals we measured biochemical markers (serum Ca, P, Cr, Al, osteocalcin, hydroxyproline) as well as bone mineral density and bone histomorphometry (BV/TV, CTh, ObS/BS, OTh, and NOc/TV). Bone aluminum content, measured by atomic absorption spectrometry, was 101.6 +/- 13 microg/g in the Al overloaded group and 1.31 +/- 0.14 in controls. Bone mineral density, evaluated by dual X-ray absorptiometry (DXA) at the proximal extremity of the tibia was significantly higher in G1 (0.292 +/- 0.01 g/cm2 versus 0. 267 +/- 0.02 g/cm2). No significant differences were found between the biochemical markers. In the histomorphometric parameters we observed significant differences in G1 compared with G2: an increase in BV/TV (18.59 +/- 5.6 versus 7.69 +/- 3.08%) and in CTh (0.52 +/- 0.06 versus 0.36 +/- 0.07 mm) with a moderate increment of the osteoid thickness (14.05 +/- 4.72 versus 5.25 +/- 0.9 microm) (P < 0. 05). Changes in others parameters and the relationship between biochemical parameters of bone remodeling, Al, and histology were analyzed. These findings indicate that in rats with normal renal function, Al is able to induce bone formation even when osteopenia is present.

[Evaluation of the external cephalic version in the management of dystocia]. / Evaluación de la versión cefálica externa en el manejo de las distocias de presentación.

We studied 45 patients with fetal malpresentations in a controlled trial, in which external cephalic version with tocolysis was performed. The final version rate was 73%, with a 49% of cesarean section in the study group compared with 87% in the control group. The most important factors related with successful version were type of presentation and parity. No important maternal of fetal complications were noted.

[Mechanisms of resistance to organophosphate insecticides, carbamates, and pyrethroids in populations of Musca domestica L. (Diptera: Muscidae)]. / Mecanismos de resistencia a insecticidas organofosforados, carbamatos y piretroides en poblaciones de Musca domestica L. (Diptera: Muscidae).

Resistance to organophosphorus insecticides (malathion, chlorpyriphos, pyrimiphos-methyl); carbamates (propoxur); and pyrethroids (permethrin, deltametrine, cypermetrine, and lambda cialotrine) was studied in field populations of Musca domestica; results were compared with a susceptible reference strain. The method of topic application was employed in the bioassays; the synergist effect of the s,s,s tributyl phosphorotrioate and of the piperonyl butoxide (PB) was also tested. Biochemical microplate tests were also carried out to determine the presence of esterase and acetylcholinesterase enzymes in the three populations. Generalized resistance to malathion (FR = 264.6; 164.0; 154.7) was observed.

[A biochemical method for the determination of the altered acetylcholinesterase which confers resistance to organophosphate and carbamate insecticides in Culex quinquefasciatus Say, 1823]. / Método bioquímico para la determinación de acetil colinesterasa modificada, que confiere resistencia cruzada a insecticidas organofosforados y carbamatos en Culex quinquefasciatus Say, 1823.

The application of a rapid technique to determine the frequency of the altered acetylcholinesterase gene which confers cross resistance to organophosphate and carbamate insecticides to mosquitoes, was tested. Laboratory strains of Culex quinquefasciatus Say, 1823 were used to apply this technique: A clear differentiation in absorbance values was attained among resistant susceptible homozygous mosquitoes (SS), heterozygous (RS); and homozygous (RR), with residual enzymatic activity values of 10-60; 70-100; and 80-120, respectively. This was clearly differentiated at first sight due to a change of the reaction's yellow color. The gene of the altered acetylcholinesterase was found in the Culex quinquefasciatus strains under study.

[Variation in organophosphate and carbamate insecticide resistance in relation to esterase activity in Culex (c.) quinquefasciatus Say, 1823 (Diptera: Culicidae)]. / Variación de la resistencia a insecticidas organofosforados y carbamato y su relación con la actividad de las enzimas esterasas en Culex (C.) quinquefasciatus Say, 1823 (Diptera: Culicidae).

We determined the existence of the resistance mechanism by means of the esterase enzymes in a Culex (C) quinquefasciatus stock established in the laboratory. Bioassays were performed with insecticides such as malathion and temephos (organophosphoric) and propoxur (carbomate); two cycles were completed during one year. Resistance to malathion was higher. The presence of esterase enzymes in this stock was determined by using synergits and starch gel and paper filter electrophoresis techniques.

[Esterase patterns in Culex (C.) quinquefasciatus Say, 1823, and its relation to malathion organophosphate insecticide resistance]. / Patrones de esterasas en Culex (C.) quinquefasciatus Say, 1823, y su relación con la resistencia al insecticida organofosforado malatión.

This paper describes the esterase patterns found in a wild strain of Culex quinquefasciatus which was known to bear resistance genes and the existence of genetic polymorphism for such esterases is demonstrated. The most frequent polymorphisms found were Est-1, Est-2, and Est-3; Est-2 was possibly responsible for Culex quinquefasciatus resistance. The frequency of potentially resistant females was significantly higher as compared to males: in addition, the hypothesis was proposed that heterozygotie Est-3 is selected as a genotype which may contribute to resistance in neotropical areas.

[Neonatal lactic acidosis caused by severe pyruvate carboxylase deficiency]. / Acidosis láctica neonatal debida a deficiencia aislada de piruvato carboxilasa.

A new patient with neonatal lactic acidosis due to pyruvate carboxylase deficiency is described. Since birth he developed vomiting, hypothermia, lethargy, irritability, hypoglycemia and severe metabolic acidosis. During admission a progressive deterioration was observed. Despite different attempted therapies patient died at 4 1/2 months of age. High levels of plasma and urine lactate and pyruvate were detected. Enzymatic studies in cultures skin fibroblasts and postmortem tissues showed a severe deficiency of pyruvate carboxylase.