Enfermedad de McArdle en cuatro pacientes pediátricos. Algoritmo diagnóstico ante una intolerancia al ejercicio / McArdle’s disease in four pediatric patients. Diagnostic algorithm for exercise intolerance

Introducción: La enfermedad de McArdle está causada por una mutación en el gen PYGM y déficit de miofosforilasa muscular, resultando alterada la liberación de glucosa-1-P a partir del glucógeno. Suele manifestarse en la infancia con cansancio precoz y excesivo, mialgias, calambres y contracturas o rabdomiólisis, aunque no suele diagnosticarse hasta la etapa adulta. La creatincinasa se incrementa durante el ejercicio. Se presentan cuatro pacientes pediátricos, se resume la fisiopatología y se propone un algoritmo diagnóstico. Pacientes y métodos: Pacientes con edades entre 6 y 14 años. Se describe la anamnesis, la exploración física, la bioquímica, el electromiograma, el test de isquemia y el estudio genético, con biopsia muscular a un solo paciente. Se elabora un algoritmo a partir del test de isquemia. Resultados: En los tres varones, las mialgias aparecieron tras finalizar cada sesión deportiva, con un fenómeno second wind en un caso. Se apreció un test de isquemia sin elevación del lactato y marcada elevación del amonio en todos, una biopsia muscular con depósitos de glucógeno y ausencia de miofosforilasa, y gen PYGM con mutaciones homocigotas en todos. El tratamiento dietético les atenuó la sintomatología durante los ejercicios aeróbicos. Conclusiones: El test de isquemia resultó muy útil para demostrar una disfunción en la glucólisis anaeróbica. Se destaca que el suplemento oral de glucosa es muy útil para la enfermedad de McArdle, pero está contraindicado en los seis defectos de la glucólisis anaeróbica. El algoritmo también permite orientar el defecto de 20 miopatías metabólicas o estructurales, que se resumen.(AU)

INTRODUCTION: McArdle’s disease is caused by a mutation in the PYGM gene, causing a muscle myophosphorylase deficiency, altering the release of glucose-1-P from glycogen. It usually manifests itself in childhood with early and excessive tiredness, myalgias, cramps and contractures or rhabdomyolysis, although it is not usually diagnosed until adulthood. Creatine kinase increases sharply during exercise. Four pediatric patients are presented, the pathophysiology is summarized, and a diagnostic algorithm is proposed. PATIENTS AND METHODS: Ages between 6 and 14 years, the anamnesis, physical examination, biochemistry, elec­tro­myogram, ischemia test and genetic study are described. Muscle biopsy in a single patient. The algorithm was developed from the ischemia test. RESULTS: In the three men, myalgias appeared after finishing each sports session. Phenomenon ‘second wind’ in one case. Ischemia test without lactate elevation and marked ammonia elevation in all. Only one muscle biopsy with glycogen deposits and absence of myophosphorylase. PYGM gene with homozygous mutations in all. Dietary treatment attenuated their symptoms during aerobic exercises. CONCLUSIONS:The ischemia test was very useful to demonstrate a dysfunction in anaerobic glycolysis. It is worth noting that oral glucose supplementation is very useful in McArdle disease, but is contraindicated in all six defects of anaerobic glycolysis. The algorithm also allows targeting the defect of 20 metabolic or structural myopathies, which are summarized.(AU)

[McArdle's disease in four pediatric patients. Diagnostic algorithm for exercise intolerance]. / Enfermedad de McArdle en cuatro pacientes pediátricos. Algoritmo diagnóstico ante una intolerancia al ejercicio.

INTRODUCTION: McArdle's disease is caused by a mutation in the PYGM gene, causing a muscle myophosphorylase deficiency, altering the release of glucose-1-P from glycogen. It usually manifests itself in childhood with early and excessive tiredness, myalgias, cramps and contractures or rhabdomyolysis, although it is not usually diagnosed until adulthood. Creatine kinase increases sharply during exercise. Four pediatric patients are presented, the pathophysiology is summarized, and a diagnostic algorithm is proposed. PATIENTS AND METHODS: Ages between 6 and 14 years, the anamnesis, physical examination, biochemistry, elec-tro-myogram, ischemia test and genetic study are described. Muscle biopsy in a single patient. The algorithm was developed from the ischemia test. RESULTS: In the three men, myalgias appeared after finishing each sports session. Phenomenon 'second wind' in one case. Ischemia test without lactate elevation and marked ammonia elevation in all. Only one muscle biopsy with glycogen deposits and absence of myophosphorylase. PYGM gene with homozygous mutations in all. Dietary treatment attenuated their symptoms during aerobic exercises. CONCLUSIONS: The ischemia test was very useful to demonstrate a dysfunction in anaerobic glycolysis. It is worth noting that oral glucose supplementation is very useful in McArdle disease, but is contraindicated in all six defects of anaerobic glycolysis. The algorithm also allows targeting the defect of 20 metabolic or structural myopathies, which are summarized.

TITLE: Enfermedad de McArdle en cuatro pacientes pediátricos. Algoritmo diagnóstico ante una intolerancia al ejercicio.Introducción. La enfermedad de McArdle está causada por una mutación en el gen PYGM y déficit de miofosforilasa muscular, resultando alterada la liberación de glucosa-1-P a partir del glucógeno. Suele manifestarse en la infancia con cansancio precoz y excesivo, mialgias, calambres y contracturas o rabdomiólisis, aunque no suele diagnosticarse hasta la etapa adulta. La creatincinasa se incrementa durante el ejercicio. Se presentan cuatro pacientes pediátricos, se resume la fisiopatología y se propone un algoritmo diagnóstico. Pacientes y métodos. Pacientes con edades entre 6 y 14 años. Se describe la anamnesis, la exploración física, la bioquímica, el electromiograma, el test de isquemia y el estudio genético, con biopsia muscular a un solo paciente. Se elabora un algoritmo a partir del test de isquemia. Resultados. En los tres varones, las mialgias aparecieron tras finalizar cada sesión deportiva, con un fenómeno second wind en un caso. Se apreció un test de isquemia sin elevación del lactato y marcada elevación del amonio en todos, una biopsia muscular con depósitos de glucógeno y ausencia de miofosforilasa, y gen PYGM con mutaciones homocigotas en todos. El tratamiento dietético les atenuó la sintomatología durante los ejercicios aeróbicos. Conclusiones. El test de isquemia resultó muy útil para demostrar una disfunción en la glucólisis anaeróbica. Se destaca que el suplemento oral de glucosa es muy útil para la enfermedad de McArdle, pero está contraindicado en los seis defectos de la glucólisis anaeróbica. El algoritmo también permite orientar el defecto de 20 miopatías metabólicas o estructurales, que se resumen.

Analysis of association of FOXO3 gene with Trypanosoma cruzi infection and chronic Chagasic cardiomyopathy.

FOXO3, a member of the Forkhead family of proteins, plays a role in controlling immune response. FOXO3 gene variant rs12212067 has been associated to differential severity of infectious diseases like malaria. In this study, we assessed whether this FOXO3 gene polymorphism is related to susceptibility to infection by Trypanosoma cruzi and/or chronic Chagasic cardiomyopathy. A total of 1171 individuals from a Colombian region endemic for Chagas disease, classified as seronegative (n = 595), seropositive asymptomatic (n = 175) and chronic Chagasic cardiomyopathy (n = 401) were genotyped for the FOXO3 rs12212067 using TaqMan allelic discrimination. Our results showed no statistically significantly differences between allelic and genotypic frequencies of rs12212067 in seronegative individuals compared with seropositive individuals. Similarly, we observed no evidence of association when asymptomatic individuals were compared with chronic Chagasic cardiomyopathy patients. Our data suggest that the FOXO3 genetic variant rs12212067 do not play an important role in Chagas disease.

Investigation of the role of IL17A gene variants in Chagas disease.

Human host genetic factors have been suggested to be determinants of the prevalence and clinical forms of Chagas disease. In this regard, IL-17A is believed to control parasitemia and protect against heart disease. In this work, we assessed whether IL17A gene polymorphisms are related to infection and/or development of the cardiac form of Chagas disease by genotyping for five IL17A SNPs (rs4711998, rs8193036, rs3819024, rs2275913 and rs7747909) in 1171 individuals from a Colombian region endemic for Chagas disease, classified as seronegative (n=595), seropositive asymptomatic (n=175) and chronic Chagas cardiomyopathy (n=401). Our results showed that SNP rs8193036, which is located upstream of the coding region of the gene, was slightly associated with protection against T. cruzi infection (P=0.0170, P(FDR)=0.0851, odds ratio (OR)=0.80, confidence interval (CI)=0.66-0.96) and associated with protection against the development of cardiomyopathy (P=0.0065, P(FDR)=0.0324, OR=0.75, CI=0.60-0.92). This finding suggests that this IL17A polymorphism could be associated with Trypanosoma cruzi infection and the development of chronic cardiomyopathy due to differential expression of cytokine IL-17A.

Physiological and biochemical responses of Eichhornia crassipes exposed to Cr (III).

The effect of exposure of Eichhornia crassipes to Cr (III) was assessed by measuring changes in photosynthetic pigments, malondialdehyde, superoxide dismutase, glutathione reductase, catalase, and guaiacol peroxidase activities, as well as Cr concentration in tissues. Cr concentration in roots was significantly higher than in aerial parts and increased with Cr concentration in water. Photosynthetic pigments increased significantly, whereas the activities of antioxidant enzymes varied differently in plant tissues. Low Cr concentrations induced a rapid response of E. crassipes during short-term exposure, implying that the antioxidant system conferred redox homeostasis. Results showed that Cr (III) was more toxic at the two highest concentrations and long-term exposure, while it was not harmful but beneficial at the two lowest concentrations and short-term exposure. This work concludes that E. crassipes was able to grow under Cr (III) stress by protecting itself with an increase in the activity of its antioxidant system.

Polymorphisms of pro-inflammatory cytokine genes and the risk for acute suppurative or chronic nonsuppurative apical periodontitis in a Colombian population.

AIM: To determine the association of functional single nucleotide polymorphisms in genes of the pro-inflammatory cytokines tumour necrosis factor-α, interleukin-1ß, interleukin-8 and interleukin-12B with the development of two clinical forms of apical periodontitis (AP): acute suppurative and chronic nonsuppurative. METHODOLOGY: The study included 120 patients from Bucaramanga City, Colombia, 63 diagnosed with acute suppurative AP (ASAP) and 57 diagnosed with chronic nonsuppurative AP (CNAP). Genotyping for IL1B +3954 (rs1143634), IL8 / CXCL8 -251 (rs4073), IL12B +1188 (rs3212227) and TNFA -308 (rs1800629) was performed by the PCR-restriction fragment length polymorphisms method. The statistical analysis was performed using STATA 10.0 and PLINK V1.07 software. RESULTS: Significant differences in the distribution of IL8 / CXCL8 -251 A allele (P adjusted = 0.041; OR adjusted = 0.41, CI adjusted = 0.31-0.97) and IL8 / CXCL -251 TT genotype (P adjusted = 0.04; OR adjusted = 2.24, CI adjusted = 1.04-4.84) were observed comparing patients diagnosed with ASAP and CNAP. No association was observed in genotype and allele distribution for other genetic polymorphisms analysed. CONCLUSION: This study provides molecular epidemiological evidence that suggests in the present cohort that IL8 / CXCL8 -251 T allele, which is associated with higher production of IL8/CXCL8, is also associated with a higher risk of developing acute suppurative form of AP, whereas IL8 / CXCL8 -251 A allele, which is associated with lower production of IL8/CXCL8, is associated with chronic nonsuppurative form of AP. This suggests a pivotal role for IL-8/CXCL8 in periapical disease because of its ability to induce chemotaxis and modulating the directed migration of neutrophils to the site of inflammation in response to microbial infection of pulp.

[Amino acids in cerebrospinal fluid and plasma: its usefulness in the study of neuropaediatric diseases]. / Aminoacidos en liquido cefalorraquideo y plasma: utilidad en el estudio de las enfermedades neuropediatricas.

INTRODUCTION: Studying the amino acids in cerebrospinal fluid (CSF) is essential in the diagnosis of some neurological diseases and is an important aid in the diagnosis of others. No research has been published in the literature to prove the physiological relationship between the values of amino acids in CSF and plasma in the paediatric population. AIM: To define a set of ratios for amino acids in plasma and CSF in the paediatric population that can be used in daily clinical practice. PATIENTS AND METHODS: The aminograms in plasma and CSF of 105 patients with ages between 0 and 12 months were collected and analysed retrospectively. Aminograms with amino acid values that are considered to be normal according to the reference values of our laboratory were included in the sample. The quantitative analysis of amino acids was performed using high-resolution liquid chromatography and statistical analysis with the software application SPSS 19.0. RESULTS: The mean values, range and standard deviation of the amino acid concentrations in plasma and CSF, together with the CSF/plasma ratios, are reported. Significant correlations were found from 0.6 onwards between different neutral amino acids, above all in those with smaller molecular weights (Thr, Ser, Gly and Ala). CONCLUSIONS: The existence of significant correlations between the different neutral amino acids supports the idea that they share the same transporters in the blood-brain barrier. Standardising the amino acid ratios will make it possible to increase sensitivity in the detection of pathological values in plasma and CSF, to further knowledge of the pathophysiology of neurological diseases and perhaps to describe new aminoacidopathies.

Interleukin 4, interleukin 4 receptor-α and interleukin 10 gene polymorphisms in Chagas disease.

In this study, we investigated the association between single-nucleotide polymorphisms (SNPs) of the interleukin-4 (IL4), interleukin-4 receptor-α (IL4RA) and interleukin-10 (IL10) genes with the development of chagasic heart disease. This study included 260 patients from Colombia who were serologically positive for Trypanosoma cruzi antigens (cardiomyopathic, n=130; asymptomatic, n=130). Genotypes were determined by polymerase chain reaction (PCR)-restriction fragment length polymorphism or sequence-specific primer methods. We found statistically significant differences in the distribution of the IL4RA +148 AA (P=0·025, OR=1·89, CI=1·04-3·43) genotype when comparing asymptomatic and symptomatic patients. No statistically significant differences in the genotype and allele frequency of IL4 and IL10 gene polymorphisms between symptomatic and asymptomatic patients were observed. Our experimental evidence suggests that the IL4RA +148 AA genotype has a weak association with the development of chagasic cardiomyopathy in the population under study.

Differential expression of Trypanosoma cruzi I associated with clinical forms of Chagas disease: overexpression of oxidative stress proteins in acute patient isolate.

Chagas disease has a variable clinical course with different manifestations and heterogenous geographical distribution. Some studies suggest that this clinical variability could be influenced by the genetic variability of T. cruzi. Here we present the differential protein expression among trypomastigotes and amastigotes of T. cruzi group I isolates from patients with acute and chronic form of Chagas disease from Santander, Colombia. A total of 29 proteins were identified by MALDI-TOF and LC-MS/MS; twenty in trypomastigote and nine in amastigote stage. The 29 proteins identified were grouped in 7 functional categories: 1) metabolism 31%, 2) assembly of cytoskeleton 13.7%, 3) protein destination 13.7%, 4) defenses antioxidants 20.6%, 5) protein synthesis and cellular cycle 13.7%, 6) catabolism 6.8%, and 7) adhesion 3.4%. Tryparedoxin peroxidase, lipoamide dehydrogenase, tyrosine amino transferase and HSP70 were overexpressed in the acute Chagas isolate. Tryparedoxin peroxidase overexpression in the acute isolate was confirmed by Western blot analysis. Most of these proteins are associated with resistance to oxidative stress facilitating their survival within host cells. Therefore, these proteins may represent virulence factors associated with the development of the acute form of the disease and could be used as biomarkers of the clinical course of disease and as drug targets.

Colombian Trypanosoma cruzi major genotypes circulating in patients: minicircle homologies by cross-hybridization analysis.

Here we present compelling evidence of Trypanosoma cruzi genotypes infecting 77 human cases of Chagas disease in Santander Department of Colombia. The patients were clinically studied and classified according to the presence of cardiac symptoms. We describe the distribution of the major T. cruzi genotypes circulating in this area by means of direct PCR analysis of blood samples. PCR was directed to minicircles and amplified DNAs were hybridized using genotype-specific DNA probes. These samples were previously genotyped with miniexon, 24 α rRNA and cytochrome oxidase subunit II (COII) markers. Minicircle DNA analyses were more sensitive than miniexon, 24 α rRNA and CO II genes in detecting infective T. cruzi II (Tc II). Two Tc II genotypes were identified by hybridization using two complementary DNA probes in 27.3% of the patients, with 15.3% using all three markers. These corresponded to 10 cases genotyped only by hybridization. The lineage Tc I, determined by hybridization, was the most prevalent singly or combined with different genotypes (72.7%), and at least three different T. cruzi genotypes were identified. Attempts to find two T. cruzi genotypes Tc I and Tc II in other endemic areas of Colombia revealed that one similar to the most prevalent Tc I genotype was detected in distant geographical areas. A similar Tc II genotype was found in Bolivia and Chile, revealing the great distribution of some ancestral T. cruzi genotypes. We did not detect any association between infective Tc I and Tc II lineages and the severity of the patients' cardiac symptoms.

Lack of association between IL-6-174G/C gene polymorphism and Chagas disease.

The aim of this study was to investigate the role of the IL-6-174G/C gene polymorphism in susceptibility/resistance to Trypanosoma cruzi infection in two independent cohorts from Colombia and Peru. We determined the IL-6-174G/C genotypes in a sample of 399 seronegative individuals and 317 serologically positive patients from Colombia and Peru. All individuals are from regions where T. cruzi infection is endemic. No statistically significant differences in the frequency of IL-6-174G/C gene polymorphism between chagasic patients and controls or between asymptomatic and individuals with cardiomyopathy were observed. Our results do not support an evidence for a major role contribution of this IL-6 gene polymorphism in the susceptibility to or clinical manifestations of Chagas disease in these studied cohorts.

[Guillain-Barre syndrome in the paediatric age: epidemiological, clinical and therapeutic profile in a hospital in El Salvador]. / Síndrome de Guillain-Barré en edad pediátrica. Perfil epidemiológico, clínico y terapéutico en un hospital de El Salvador.

INTRODUCTION: Guillain-Barre syndrome (GBS) is an acute polyradiculoneuropathy with, in most cases, an autoimmune aetiology. It manifests as a flaccid motor paralysis, of a distal ascending type, accompanied by areflexia with or without sensory alterations. AIM: To determine the clinical and therapeutic epidemiological profile of patients diagnosed as suffering from GBS who were attended at the Benjamin Bloom Children's Hospital in El Salvador, between 1st January 1997 and 31st December 2004. PATIENTS AND METHODS: We performed an observation-based, descriptive, cross-sectional study that included 414 cases. The following data were evaluated: age distribution, sex, age, history of infections, clinical manifestations, results of the lumbar puncture, electrophysiological studies and treatment that was received. RESULTS: A predominance of males was observed, together with a more frequent presentation in school-age children. The number of cases increased in the third quarter of each of the years included in the study. The most prevalent event in the history of infections was acute respiratory infection. And the most frequent clinical presentation was ascending weakness. Albuminocytological dissociation was detected in 88% of patients who had undergone lumbar puncture. Acute inflammatory demyelinating polyneuropathy predominated in 88.3% of cases. Sixty per cent of patients had to be admitted to the intensive care unit. In most cases treatment consisted in intravenous administration of immunoglobulin. Complications occurred in 30.5% of cases and the mortality rate was 2.9%. CONCLUSIONS: GBS occurs predominantly in the rainiest season of the year, which is related to an increase in the number of infections in the upper respiratory tract and gastroenteric infections that give rise to a predisposition to present secular outbreaks of the disease.

[Merkel cell carcinoma. On one case]. / Carcinoma de células de Merkel. A propósito de un caso.

We present the case of an 86 year old woman who was sent for consultation at General Surgery due to asymptomatic tumouration on the back face of the left thigh whose size had increased during the 2 previous months. Physical exploration revealed tumouration that was painless, excrescent, indurated, mobile and well delimited, with a diameter of 5 cm, a reddish colour and a rough surface. Tumoural extirpation was carried out with broad margins, with a hystopathological result of primary cutaneous neuro-endocrynal carcinoma or Merkel cell carcinoma. Computerised tomography was carried out, observing tumoural adenopathies in the para-aortic spaces, iliac chains and left femorals, as well as edema in the lower left extremity. The patient was sent to the Oncology service for treatment, without presenting a satisfactory evolution and with a progressive deterioration of her general state, dying within the first year after diagnosis.

[A case of mesenteric panniculitis]. / Paniculitis mesentérica. A propósito de un caso.

Mesenteric panniculitis can be considered as an evolved state of a mesenteric disease, with a first phase of mesenteric lipodystrophy without inflammatory signs, followed by a second phase of panniculitis, ending in fibrosis, at which point it is denominated retractile mesentiritis, which principally affects males over the age of 50. Its aetiology is unknown, with a description made of different associated factors, and its clinical presentation is variable, depending on the stage of the disease. The image test indicated for its diagnosis is the TAC, while an histopathological study provides the definitive diagnosis. There are different medicines and therapeutic guidelines, although studies establishing the ideal treatment are lacking. We present the case of a patient diagnosed with mesenteric panniculitis who evolved favourably followed treatment with cyclophosphamide associated with corticoids.

STAT4 but not TRAF1/C5 variants influence the risk of developing rheumatoid arthritis and systemic lupus erythematosus in Colombians.

The aim of this study was to determine the influence of STAT4 (rs7574865) and TRAF1/C5 (rs10818488 and rs2900180) gene polymorphisms on the risk of developing rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) in a Colombian population. This was a case-control study in which 839 individuals with RA (N=274) and SLE (N=144) and matched healthy controls (N=421) were included. Genotyping was performed by using a polymerase chain reaction system with pre-developed TaqMan allelic discrimination assay. STAT4 rs7574865T allele disclosed a significant influence on the risk of developing SLE (P=0.0005; OR 1.62, 95% CI 1.22-2.16) and RA (P=0.008; OR 1.36; 95% CI 1.08-1.71), whereas no effect on these autoimmune diseases was observed for the TRAF1/C5 polymorphisms examined. Our data strengthen STAT4 rs7574865 polymorphism as a susceptibility factor for RA and SLE and provide further evidence for a common origin of autoimmune diseases.

Paniculitis mesentérica. A propósito de un caso / A case of mesenteric panniculitis

La paniculitis mesentérica puede ser considerada como un estadio evolutivo de una enfermedad mesentérica, con una primera fase de lipodistrofia mesentérica sin signos inflamatorios, seguida de una segunda fase de paniculitis, para finalizar en fibrosis, denominándose entonces mesenteritis retráctil, que afecta principalmente a varones con más de 50 años. La etiología es desconocida, habiéndose descrito diferentes factores asociados, y la presentación clínica es variable, en función del estadio de la enfermedad. Para su diagnóstico la TAC es la prueba de imagen indicada, siendo el estudio histopatológico el que arrojará el diagnóstico definitivo. Existen diferentes fármacos y pautas terapéuticas, si bien se carecen de estudios donde se establezca el tratamiento idóneo. Presentamos el caso de un paciente diagnosticado de paniculitis mesentérica que ha evolucionado satisfactoriamente tras haber sido tratado con ciclofosfamida asociada a corticoides (AU)

Mesenteric panniculitis can be considered as a nevolved state of a mesenteric disease, with a first phase of mesenteric lipodys trophy without inflammatory signs, followed by a second phase of panniculitis, ending in fibrosis, at which point it is denominated retractile mesentiritis, which principally affects males over the age of 50. It’s a etiology is unknown, with a description made of different associated factors, and its clinical presentation is variable, depending on the stage of the disease. The image test indicated for its diagnosis is the TAC, while an histopathological study provides the definitive diagnosis. There are different medicines and therapeutic guidelines, although studies establishing the ideal treatment are lacking. We present the case of a patient diagnosed with mesenteric panniculitis who evolved favourably followed treatment with cyclophosphamide associated with corticoids (AU)

[Clinical characteristics and progress of patients with migrainous headaches monitored in the Headache Unit in a paediatric referral hospital]. / Características clínicas y evolución de los pacientescon cefalea migrañosa seguidos en la Unidad deCefaleas de un hospital pediátrico de referencia.

AIM: To analyse the clinical characteristics and course of migraine patients who were attended in the Headache Unit of a paediatric referral hospital. PATIENTS AND METHODS: We conducted a retrospective observational study of children monitored in the Headache Unit of the Neurology Service who satisfied the International Headache Society diagnostic criteria for migraine, with a follow-up lasting more then six months. The following were excluded from the study: patients who failed to comply with the treatment or clinical monitoring, or whose medical data were incomplete. RESULTS: There was a predominance of patients aged between 7 and 12 years, with no differences as regards sex. Bilateral and frontal migraine without aura predominated (74%), with episodes lasting between 3 and 12 hours, and the throbbing type accounted for 45% of cases. The most common accompanying symptoms were photophobia (86%) and phonophobia (88%). Except for the second visit, the tendency of the group without prophylactic treatment was favourable. When prophylactic treatment was indicated, a favourable response was observed (p < 0.05), and no significant differences were found as regards the type of medication employed. A total of 73% of the patients were discharged, and most of them required three visits; 30% of the patients treated reported some kind of side effects. CONCLUSIONS: Migraine at the paediatric age is characterised by short but intense episodes of headache that are mostly located in the frontal area. Progress is satisfactory without pharmacological measures in a high percentage of patients. When prophylactic medication was required (due to the patient's presenting frequent episodes of migraine with high scores on the PedMIDAS rating scale), a favourable response was obtained (p < 0.05), with some side effects.

Síndrome de Paget-Schroetter asociado a hiperhomocisteinemia / Paget-Schroetter síndrome associated with hyperhomocsyteinemia

La enfermedad tromboembólica venosa (ETEV) en extremidades superiores es una entidad poco frecuente, si bien su incidencia ha aumentado en relación con el empleo de catéteres venosos centrales. La etiología puede ser primaria (idiopática, espontánea, de esfuerzo o traumática) o secundaria (relacionada con tumores, catéteres venosos centrales, etc.). Presentamos un caso de trombosis venosa primaria de extremidad superior derecha, también llamada síndrome de Paget- Schroetter. Este cuadro suele asociarse a ejercicios o esfuerzos intensos y/o repetitivos de la extremidad afecta, alteraciones anatómicas en la zona, o bien puede ser la primera manifestación de un estado trombofílico desconocido hasta ese momento, como en el caso que nos ocupa. La clínica suele consistir en dolor en extremidad afecta, acompañado frecuentemente de edema y circulación colateral. La ecografía-doppler presenta con frecuencia falsos negativos, recomendando la realización de TAC por su mayor especificidad y para valoración de las estructuras vecinas, aunque la flebografía continúa siendo la prueba oro para el diagnóstico de este cuadro. No existe unanimidad acerca del tratamiento, recomendándose individualizar de acuerdo con las características propias de cada caso

Venous thromboembolic disease (VTED) in the upper extremities is an infrequent entity, although its incidence has increased in relation to the use of central venous catheters. Its etiology can be primary (idiopathic, spontaneous, due to effort or traumatic) or secondary (related to tumours, central venous catheters, etc.). We present a case of primary venous thrombosis of the upper right extremity, also called the Paget-Schroetter syndrome. This clinical picture is usually associated with intensive and/or repetitive exercise or effort of the affected extremity, anatomical alterations in the zone, or it can be the first manifestation of a previously unknown thrombophilic state, as in the case that concerns us. The clinical picture usually consists of pain in the affected extremity, frequently accompanied by edema and collateral circulation. Echography-Doppler frequently presents false negatives, and it is recommendable to carry out CAT, due to its greater specificity and for evaluating the neighbouring structures, although flebography continues to be the cardinal test for diagnosing this picture. There is no unanimity of opinion concerning treatment, and it is recommendable that this should be individualised in accordance with the characteristics of each case

[Calcinosis cutis: on one case]. / Calcinosis cutis: a propósito de un caso.

We present the case of a woman of 72 years with high blood pressure evaluated in Surgery Outpatient Unit for overinfected and recurring pretibial cutaneous ulcers. In the radiographies of the extremity, calcifications were observed in soft parts and the biopsy showed calcified subepidermic nodules. Because of these findings, she was sent to Internal Medicine Consultations to complete the study. In the anamnesis, traumatism in the zone was ruled out, and was there consumption of calcium or phosphorous rich medicines; the physical exploration was normal, except for the lesions described previously. A study was requested to rule out any underlying pathology that might justify the clinical picture, without a possible etiological pathological cause in evidence. Given that the cutaneous calcinosis of the patient was not secondary to titular lesions, nor was there evidence of metabolic alterations or medical procedures that might justify it, and no lesions at another level were found, the diagnosis was established of idiopathic localised cutaneous calcinosis. It was treated with diltiazem.

Association study of PTPN22 C1858T polymorphism in Trypanosoma cruzi infection.

In this study we investigated a possible role for the single nucleotide polymorphism C1858T of the PTPN22 (protein tyrosine phosphatase nonreceptor 22) gene in determining the susceptibility to Trypanosoma cruzi infection, as well as in development of chagasic heart disease. This study included 316 patients with Chagas' disease and 520 healthy individuals from Colombia and Peru. Genotyping of PTPN22 was performed by the real-time polymerase chain reaction technology, using the TaqMan 5' allelic discrimination assay. No statistically significant differences in the frequency of PTPN22 C1858T gene polymorphism between chagasic patients and controls or between asymptomatic and cardiomyopathic individuals were observed. Our findings suggest that the PTPN22 polymorphism analyzed does not play a major role in the development of Chagas' disease in the Colombian and Peruvian populations.