Enfermedad de Pompe de inicio tardío: análisis de una casuística de 19 pacientes mexicanos / Late onset Pompe disease: an analysis of 19 patients from Mexico

Introducción: La enfermedad de Pompe es una miopatía metabólica rara con espectro clínico heterogéneo, especialmente la de inicio tardío, cuya sintomatología es de progresión más lenta y representa un gran reto diagnóstico. Objetivo: Describir el genotipo y las características clínicas de pacientes mexicanos con Pompe de inicio tardío (LOPD). Material y métodos. Se incluyó a 19 pacientes mexicanos con LOPD confirmada mediante actividad enzimática y estudio molecular del gen GAA. Se evaluaron datos clínicos y se revisaron las mutaciones en bases de datos genómicas. Resultados: La mediana de edad de inicio de los síntomas fue de 19 años (rango: 2-43 años), y la edad de diagnóstico, de 36 años (rango: 9-52 años). Los síntomas más frecuentes fueron debilidad axial y proximal (n = 17; 89,5%), marcha basculante (n = 17; 89,5%) e hiperlordosis (n = 7; 36,8%). A 16 pacientes (84,2%) se les realizó electromiografía; 11 (57,8%) describieron patrón miopático y sólo en cinco pacientes (26%) se incluyó la valoración de los músculos paraespinales. Las variantes patogénicas más frecuentes en nuestra casuística fueron c.-32-13T>G, c.1799G>A y c.1082C>T. Conclusiones: Parecido a lo comunicado en publicaciones internacionales, la LOPD en México es clínicamente heterogénea; los pacientes pueden tardar años en llegar al diagnóstico. La debilidad muscular axial y proximal es el dato clínico más frecuente, por lo que la electromiografía debe incluir valoración de los músculos paraespinales. A excepción de una, las mutaciones encontradas en nuestra serie de casos se encuentran previamente descritas en las bases de datos de enfermedad de Pompe.(AU)

Introduction: Pompe disease (PD) is a rare metabolic myopathy with an ample and heterogeneous clinical spectrum, particularly late onset PD (LOPD), which is characterized by appearance at older age and slower disease progression, leading to diagnostic confirmation difficulty and delay. Aim: To describe the genotype and clinical characteristics of Mexican patients with LOPD. Material and methods: Clinical information from 19 Mexican patients with LOPD confirmed with enzyme activity and GAA gene analysis was reviewed. Genetic information of our population was crossed with international genetic databases. Results: Median age between onset of symptoms and diagnosis was 19 years (range 2-43) and diagnostic confirmation 36 years (range 9-52). Most frequently referred symptoms were proximal axial weakness (n = 17; 89.5%), waddling gait (n = 17; 89.5%) and hyperlordosis (n = 7; 36.8%). Sixteen patients (84.2%) were evaluated with electromyography; a myopathic pattern was reported in 11 (57.8%), but only in 5 patients (26%) paraspinal muscle evaluation was included. The most pathogenic mutations in our group were c.-32-13T>G, c.1799G>A and c.1082C>T. Conclusions: Similar to other international publications, LOPD in Mexico is clinically heterogeneous; patients may delay years before diagnosis is established. Axial and proximal weakness is the most frequent clinical feature; thus, electromyography with paraspinal muscle evaluation is essential. Except for one, the mutations found in our patients have been previously reported in PD genetic databases.(AU)

[Late onset Pompe disease: an analysis of 19 patients from Mexico]. / Enfermedad de Pompe de inicio tardío: análisis de una casuística de 19 pacientes mexicanos.

INTRODUCTION: Pompe disease (PD) is a rare metabolic myopathy with an ample and heterogeneous clinical spectrum, particularly late onset PD (LOPD), which is characterized by appearance at older age and slower disease progression, leading to diagnostic confirmation difficulty and delay. AIM: To describe the genotype and clinical characteristics of Mexican patients with LOPD. MATERIAL AND METHODS: Clinical information from 19 Mexican patients with LOPD confirmed with enzyme activity and GAA gene analysis was reviewed. Genetic information of our population was crossed with international genetic databases. RESULTS: Median age between onset of symptoms and diagnosis was 19 years (range 2-43) and diagnostic confirmation 36 years (range 9-52). Most frequently referred symptoms were proximal axial weakness (n = 17; 89.5%), waddling gait (n = 17; 89.5%) and hyperlordosis (n = 7; 36.8%). Sixteen patients (84.2%) were evaluated with electromyography; a myopathic pattern was reported in 11 (57.8%), but only in 5 patients (26%) paraspinal muscle evaluation was included. The most pathogenic mutations in our group were c.-32-13T>G, c.1799G>A and c.1082C>T. CONCLUSIONS: Similar to other international publications, LOPD in Mexico is clinically heterogeneous; patients may delay years before diagnosis is established. Axial and proximal weakness is the most frequent clinical feature; thus, electromyography with paraspinal muscle evaluation is essential. Except for one, the mutations found in our patients have been previously reported in PD genetic databases.

TITLE: Enfermedad de Pompe de inicio tardío: análisis de una casuística de 19 pacientes mexicanos.Introducción. La enfermedad de Pompe es una miopatía metabólica rara con espectro clínico heterogéneo, especialmente la de inicio tardío, cuya sintomatología es de progresión más lenta y representa un gran reto diagnóstico. Objetivo. Describir el genotipo y las características clínicas de pacientes mexicanos con Pompe de inicio tardío (LOPD). Material y métodos. Se incluyó a 19 pacientes mexicanos con LOPD confirmada mediante actividad enzimática y estudio molecular del gen GAA. Se evaluaron datos clínicos y se revisaron las mutaciones en bases de datos genómicas. Resultados. La mediana de edad de inicio de los síntomas fue de 19 años (rango: 2-43 años), y la edad de diagnóstico, de 36 años (rango: 9-52 años). Los síntomas más frecuentes fueron debilidad axial y proximal (n = 17; 89,5%), marcha basculante (n = 17; 89,5%) e hiperlordosis (n = 7; 36,8%). A 16 pacientes (84,2%) se les realizó electromiografía; 11 (57,8%) describieron patrón miopático y sólo en cinco pacientes (26%) se incluyó la valoración de los músculos paraespinales. Las variantes patogénicas más frecuentes en nuestra casuística fueron c.-32-13T>G, c.1799G>A y c.1082C>T. Conclusiones. Parecido a lo comunicado en publicaciones internacionales, la LOPD en México es clínicamente heterogénea; los pacientes pueden tardar años en llegar al diagnóstico. La debilidad muscular axial y proximal es el dato clínico más frecuente, por lo que la electromiografía debe incluir valoración de los músculos paraespinales. A excepción de una, las mutaciones encontradas en nuestra serie de casos se encuentran previamente descritas en las bases de datos de enfermedad de Pompe.

Primordial odontogenic tumour of the maxilla: case report and review of the literature.

Primordial odontogenic tumour (POT) is a relatively newly described entity with well-defined clinicopathological features. Since its initial description in 2014, 22 cases of POT have been reported in the literature. Only five cases of POT have arisen in the maxilla. This article describes an additional patient with a POT of the maxilla and provides a review of the literature on POT.

Augmentation of EMDR with multifocal transcranial current stimulation (MtCS) in the treatment of fibromyalgia: study protocol of a double-blind randomized controlled exploratory and pragmatic trial.

BACKGROUND: Fibromyalgia (FM) is a generalized, widespread chronic pain disorder affecting 2.7% of the general population. In recent years, different studies have observed a strong association between FM and psychological trauma. Therefore, a trauma-focused psychotherapy, such as eye movement desensitization and reprocessing (EMDR), combined with a non-invasive brain stimulation technique, such as multifocal transcranial current stimulation (MtCS), could be an innovative adjunctive treatment option. This double-blind randomized controlled trial (RCT) analyzes if EMDR therapy is effective in the reduction of pain symptoms in FM patients and if its potential is boosted with the addition of MtCS. METHODS: Forty-five patients with FM and a history of traumatic events will be randomly allocated to Waiting List, EMDR + active-MtCS, or EMDR + sham-MtCS. Therapists and patients will be kept blind to MtCS conditions, and raters will be kept blind to both EMDR and MtCS. All patients will be evaluated at baseline, post-treatment, and follow-up at 6 months after post-treatment. Evaluations will assess the following variables: sociodemographic data, pain, psychological trauma, sleep disturbance, anxiety and affective symptoms, and wellbeing. DISCUSSION: This study will provide evidence of whether EMDR therapy is effective in reducing pain symptoms in FM patients, and whether the effect of EMDR can be enhanced by MtCS. TRIAL REGISTRATION: ClinicalTrials.gov NCT04084795 . Registered on 2 August 2019.

Association between serotonin 2C receptor gene (HTR2C) polymorphisms and psychopathological symptoms in children and adolescents.

Serotonin 2C receptors (5HT2C) are involved in serotonin-driven dynamic equilibrium adjustments responsible for homeostatic stability in brain structures that modulate behavior and emotions. Single nucleotide polymorphisms (SNPs) from the serotonin 2C receptor gene (HTR2C) have been associated with several neurological and mental disorders, including abnormalities in cognitive and emotional processes. The aim of this study was to evaluate the association between the rs6318 SNP of the HTR2C gene and behavioral characteristics exhibited by children and adolescents based on the Child Behavior Checklist (CBCL/6-18) inventory. Eighty-five psychiatric outpatients between 8 and 18 years of age underwent genotyping of the rs6318 SNP. The CBCL/6-18 scale was administered to their caregivers. The chi-squared test was used to assess differences in the frequency of C and G alleles of the rs6318 SNP relative to the grouped CBCL/6-18 scores; significance level was 5%. The presence of the G allele of rs6318 was found to be associated with characteristics of aggressive behavior and social problems, and aggressive behavior was found to be associated with heterozygosis in females. These findings contribute to the identification of mental and behavioral phenotypes associated with gene expression.

MIF functional polymorphisms (-794 CATT5-8 and -173 G>C) are associated with MIF serum levels, severity and progression in male multiple sclerosis from western Mexican population.

Macrophage migration inhibitory factor (MIF) is a cytokine associated with tissue damage in multiple autoimmune diseases such as systemic lupus erythematosus, rheumatoid arthritis and psoriatic arthritis. The role of MIF in multiple sclerosis (MS) and the contribution of its polymorphisms are unknown in our population. Therefore, we decided to investigate the genetic association of -794 CATT5-8 (rs5844572) and -173 G>C (rs755622) MIF polymorphisms with MS, clinical variables and MIF serum levels in the population of western Mexico. 230 MS patients diagnosed according to McDonald criteria and 248 control subjects (CS) were recruited for this study, both polymorphisms were genotyped by PCR and PCR-RFLP and MIF serum levels were measured by ELISA kit. Severity and progression of MS were evaluated by EDSS and MSSS scores, respectively. Genotypes carrying the 5 repeats alleles of -794 CATT5-8MIF polymorphism present higher MIF serum levels in comparison with no carriers, and the presence of 5,7 heterozygous genotype contribute to the increase of disease severity and damage progression in MS patients. Notably when we stratified by sex, an effect of risk alleles (7 repeats and -173*C) of both MIF polymorphisms on EDSS and MSSS scores on males was found (p < 0.01). This study suggests that polymorphic alleles of MIF polymorphisms could act as sex-specific disease modifiers that increase the severity and progression of MS in male Mexican-Mestizo western population.

Endocrine and metabolic assessment in adults with Langerhans cell histiocytosis.

CONTEXT: Diabetes insipidus (DI) is one of most common complications of Langerhans cell histiocytosis (LCH) but prevalence of anterior pituitary deficiencies and metabolic alterations have not been clearly defined yet. OBJECTIVES: Evaluate prevalence of endocrine and metabolic manifestations in a cohort of patients affected by Pulmonary LCH. METHODS: Observational cross-sectional study on 18 adults (7 M/11 F, 42±12years) studied for complete basal and dynamic endocrine lab tests and glucose metabolism. RESULTS: Hypothalamic-pituitary endocrine alterations were found in 9 patients: 9 had DI, 5 Growth Hormone Deficiency (GHD), 5 central hypogonadism, 3 central hypothyroidism and 1 central hypoadrenalism. Hyperprolactinemia and hypothalamic syndrome were found in 2 patients each. All these central endocrine alterations were always associated to DI. Five of the 10 MRI performed showed abnormalities. Prevalence of obesity and glucose alterations (either DM or IFG/IGT) were respectively 39% and 33%, higher than expected basing on epidemiological data on general Italian population. Multi-system-LCH without risk-organ involvement (LCH MS-RO-) seems to have slightly higher prevalence of insulin resistance, glucose alterations and metabolic syndrome than LCH with isolated lung involvement (LCH SS lung+). A papillary BRAFV600E positive thyroid carcinoma was diagnosed in one patient. CONCLUSIONS: The presence of anterior pituitary deficiencies should be systematically sought in all LCH patients with DI both at diagnosis and during the follow-up by basal and dynamic hormonal assessment. Patients with pulmonary LCH, particularly those with MS disease, have a worse metabolic profile than general population. Occurrence of papillary thyroid carcinoma has been reported.

Association between serotonin 2C receptor gene (HTR2C) polymorphisms and psychopathological symptoms in children and adolescents

Serotonin 2C receptors (5HT2C) are involved in serotonin-driven dynamic equilibrium adjustments responsible for homeostatic stability in brain structures that modulate behavior and emotions. Single nucleotide polymorphisms (SNPs) from the serotonin 2C receptor gene (HTR2C) have been associated with several neurological and mental disorders, including abnormalities in cognitive and emotional processes. The aim of this study was to evaluate the association between the rs6318 SNP of the HTR2C gene and behavioral characteristics exhibited by children and adolescents based on the Child Behavior Checklist (CBCL/6-18) inventory. Eighty-five psychiatric outpatients between 8 and 18 years of age underwent genotyping of the rs6318 SNP. The CBCL/6-18 scale was administered to their caregivers. The chi-squared test was used to assess differences in the frequency of C and G alleles of the rs6318 SNP relative to the grouped CBCL/6-18 scores; significance level was 5%. The presence of the G allele of rs6318 was found to be associated with characteristics of aggressive behavior and social problems, and aggressive behavior was found to be associated with heterozygosis in females. These findings contribute to the identification of mental and behavioral phenotypes associated with gene expression.

[Case report: comprehensive treatment of forefoot with double brachymetatarsia in one surgical stage]. / Tratamiento integral del antepié con doble braquimetatarsia bilateral en un tiempo quirúrgico. Reporte de un caso.

Brachymetatarsia (shortening of the metatarsal) directly affects the transversal arch of the foot causing severe deformities, such as hallux valgus, divergent toes, overlapping toes, metatarsalgia, all of these alter the biomechanics of the foot and gait. Treatment consists of two main techniques, one-stage lengthening with bone graft or elongation through callotaxis with external fixator; there are variants of both techniques used to minimize the disadvantages of each. The objective of treatment must be to return the structural harmony to the forefoot, improving the biomechanics, resulting in a satisfactory outcome for the patients. This article presents a surgical treatment for feet with closed physis to obtain the appropriate metatarsal formula and to reestablish aesthetics and function. This case was treated by means of one-stage lengthening with bone graft to the affected metatarsal; shortening of the adjacent metatarsals; hallux valgus alignment through the necessary osteotomies and the treatment of deformities of the lesser toes as needed. This surgical technique has as one of its advantages the correction of the entire forefoot at one time, without the need of an external fixator and its required postoperative care. Its main disadvantages are its dependence on structural bone graft and the need of postoperative dressing until healing of the bone has taken place. Satisfactory clinical and radiographical outcomes were obtained in treated patient.

La braquimetatarsia (acortamiento metatarsal) afecta directamente el arco transverso del pie condicionando graves deformidades como hallux valgus, divergencia digital, dedo supraaducto, metatarsalgia, todas estas alteran la biomecánica del pie y la marcha. El tratamiento se realiza mediante dos técnicas principales, elongación en un solo tiempo quirúrgico con interposición de injerto óseo o elongación por callotaxis con minifijador externo. Existen variantes de ambas técnicas con la finalidad de disminuir las desventajas de cada una de ellas. El objetivo del tratamiento debe ser devolver la armonía estructural del antepié, con lo que mejora la biomecánica, traduciéndose en una evolución satisfactoria para los pacientes. En este artículo se presenta una técnica quirúrgica para pies con fisis cerradas que busca la reestructuración de la fórmula metatarsal y el restablecimiento de la estética y función. En el caso reportado se efectuó alargamiento en un solo tiempo del metatarsiano afectado con interposición de injerto óseo, acortamiento a los metatarsianos adyacentes, corrección del hallux valgus realizando las osteotomías necesarias y el tratamiento de las deformidades de los dedos menores con los métodos requeridos para cada caso. Esta técnica quirúrgica tiene como ventaja la corrección de todo el antepié en un solo tiempo quirúrgico sin necesidad de fijador externo ni de sus cuidados postoperatorios. Sus principales desventajas son la dependencia del injerto óseo estructural y la necesidad de vendaje funcional postquirúrgico hasta la consolidación ósea. En la paciente tratada se obtuvieron resultados clínicos y radiográficos satisfactorios.

Tratamiento integral del antepié con doble braquimetatarsia bilateral en un tiempo quirúrgico. Reporte de un caso / Case report: comprehensive treatment of forefoot with double brachymetatarsia in one surgical stage

Resumen: La braquimetatarsia (acortamiento metatarsal) afecta directamente el arco transverso del pie condicionando graves deformidades como hallux valgus, divergencia digital, dedo supraaducto, metatarsalgia, todas estas alteran la biomecánica del pie y la marcha. El tratamiento se realiza mediante dos técnicas principales, elongación en un solo tiempo quirúrgico con interposición de injerto óseo o elongación por callotaxis con minifijador externo. Existen variantes de ambas técnicas con la finalidad de disminuir las desventajas de cada una de ellas. El objetivo del tratamiento debe ser devolver la armonía estructural del antepié, con lo que mejora la biomecánica, traduciéndose en una evolución satisfactoria para los pacientes. En este artículo se presenta una técnica quirúrgica para pies con fisis cerradas que busca la reestructuración de la fórmula metatarsal y el restablecimiento de la estética y función. En el caso reportado se efectuó alargamiento en un solo tiempo del metatarsiano afectado con interposición de injerto óseo, acortamiento a los metatarsianos adyacentes, corrección del hallux valgus realizando las osteotomías necesarias y el tratamiento de las deformidades de los dedos menores con los métodos requeridos para cada caso. Esta técnica quirúrgica tiene como ventaja la corrección de todo el antepié en un solo tiempo quirúrgico sin necesidad de fijador externo ni de sus cuidados postoperatorios. Sus principales desventajas son la dependencia del injerto óseo estructural y la necesidad de vendaje funcional postquirúrgico hasta la consolidación ósea. En la paciente tratada se obtuvieron resultados clínicos y radiográficos satisfactorios.

Abstract: Brachymetatarsia (shortening of the metatarsal) directly affects the transversal arch of the foot causing severe deformities, such as hallux valgus, divergent toes, overlapping toes, metatarsalgia, all of these alter the biomechanics of the foot and gait. Treatment consists of two main techniques, one-stage lengthening with bone graft or elongation through callotaxis with external fixator; there are variants of both techniques used to minimize the disadvantages of each. The objective of treatment must be to return the structural harmony to the forefoot, improving the biomechanics, resulting in a satisfactory outcome for the patients. This article presents a surgical treatment for feet with closed physis to obtain the appropriate metatarsal formula and to reestablish aesthetics and function. This case was treated by means of one-stage lengthening with bone graft to the affected metatarsal; shortening of the adjacent metatarsals; hallux valgus alignment through the necessary osteotomies and the treatment of deformities of the lesser toes as needed. This surgical technique has as one of its advantages the correction of the entire forefoot at one time, without the need of an external fixator and its required postoperative care. Its main disadvantages are its dependence on structural bone graft and the need of postoperative dressing until healing of the bone has taken place. Satisfactory clinical and radiographical outcomes were obtained in treated patient.

AGEs induce ectopic endochondral ossification in intervertebral discs

Ectopic calcifications in intervertebral discs (IVDs) are known characteristics of IVD degeneration that are not commonly reported but may be implicated in structural failure and dysfunctional IVD cell metabolic responses. This study investigated the novel hypothesis that ectopic calcifications in the IVD are associated with advanced glycation end products (AGEs) via hypertrophy and osteogenic differentiation. Histological analyses of human IVDs from several degeneration stages revealed areas of ectopic calcification within the nucleus pulposus and at the cartilage endplate. These ectopic calcifications were associated with cells positive for the AGE methylglyoxal-hydroimidazolone-1 (MG-H1). MG-H1 was also co-localised with Collagen 10 (COL10) and Osteopontin (OPN) suggesting osteogenic differentiation. Bovine nucleus pulposus and cartilaginous endplate cells in cell culture demonstrated that 200 mg/mL AGEs in low-glucose media increased ectopic calcifications after 4 d in culture and significantly increased COL10 and OPN expression. The receptor for AGE (RAGE) was involved in this differentiation process since its inhibition reduced COL10 and OPN expression. We conclude that AGE accumulation is associated with endochondral ossification in IVDs and likely acts via the AGE/RAGE axis to induce hypertrophy and osteogenic differentiation in IVD cells. We postulate that this ectopic calcification may play an important role in accelerated IVD degeneration including the initiation of structural defects. Since orally administered AGE and RAGE inhibitors are available, future investigations on AGE/RAGE and endochondral ossification may be a promising direction for developing non-invasive treatment against progression of IVD degeneration.

Form and function of the intervertebral disc in health and disease: a morphological and stain comparison study.

Multiple histologic measurements are commonly used to assess degenerative changes in intervertebral disc (IVD) structure; however, there is no consensus on which stains offer the clearest visualization of specific areas within the IVD. The objective of this study was to compare multiple tinctorial stains, evaluate their ability to highlight structural features within the IVD, and investigate how they influence the capacity to implement a degeneration scoring system. Lumbar IVDs from seven human autopsy specimens were stained using six commonly used stains (Hematoxylin/Eosin, Toluidine Blue, Safranin-O/Fast Green, Extended FAST, modified Gomori's Trichrome, and Picrosirius Red Alcian Blue). All IVDs were evaluated by three separate graders to independently determine which stains (i) were most effective at discerning different structural features within different regions of the IVDs and (ii) allowed for the most reproducible assessment of degeneration grade, as assessed via the Rutges histological scoring system (Rutges et al. A validated new histological classification for intervertebral disc degeneration. Osteoarthritis Cartilage, 21, 2039-47). Although Trichrome, XFAST and PR/AB stains were all effective at highlighting different regions of whole IVDs, we recommend the use of PR/AB because it had the highest degree of rater agreement on assigned degeneration grade, allowed greater resolution of degeneration grade, has an inferential relationship between color and composition, and allowed clear differentiation of the different regions and structural disruptions within the IVD. The use of a standard set of stains together with a histological grading scheme can aid in the characterization of structural changes in different regions of the IVD and may simplify comparisons across the field. This collection of human IVD histological images highlights how IVD degeneration is not a single disease but a composite of multiple processes such as aging, injury, repair, and disease, each of which are unique to the individual.

Lymphangioleiomyomatosis: what do we know and what are we looking for?

Lymphangioleiomyomatosis (LAM) is a rare disease characterised by proliferation of abnormal smooth muscle-like cells (LAM cells) leading to progressive cystic destruction of the lung, lymphatic abnormalities and abdominal tumours. It affects predominantly females and can occur sporadically or in patients with tuberous sclerosis complex. This review describes the recent progress in our understanding of the molecular pathogenesis of the disease and LAM cell biology. It also summarises current therapeutic approaches and the most promising areas of research for future therapeutic strategies.

[PANDAS with a chorea-like clinical presentation and associated autoimmune pathology: a case report]. / PANDAS con clínica tipo corea-like y patología autoinmune asociada: presentación de un caso.

INTRODUCTION: The disorder known as 'PANDAS syndrome' (paediatric autoimmune neuro-psychiatric disorders associated with Streptococci) consists in an abrupt onset of obsessive-compulsive symptoms and/or movement disorders, a pre-puberal onset, and an episodic course. Antibiotic therapy has been postulated as a first choice therapeutic option. A summarised review of main literature on this topic is presented. CASE REPORT: A girl, 10 years and 6 months old, with a dramatic clinical onset of a chorea-like and obsessive-compulsive symptomathology with a remarkable improvement after 10 days penicillin p.o. intake. She has a positive family history of autoimmune disorders, with elevated anti-phospholipidic antibodies. CONCLUSION: The implications of the case follow-up with many relapses, the development of a diabetes after corticoid therapy and the elevated anti glutamic dexcarboxilasa (anti-GAD) are discussed regarding a common underlying autoimmune mechanism.

PANDAS con clínica tipo corea-like y patología autoinmune asociada: presentación de un caso / Pandas with a Chorea- Like clincial presentation and associated autoimmune pathology: a case report

Resumen. Introducción. El trastorno conocido como enfermedad neuropsiquiátrica de etiología autoinmune asociada a estreptococo (PANDAS) consiste en una sintomatología de inicio brusco, con presentación clínica de tipo obsesivo-compulsivo y/o trastornos del movimiento tipo tics, de inicio prepuberal, que suele evolucionar de forma episódica y para el que se postula el tratamiento antibiótico como primera elección. Se revisan y resumen los hallazgos más relevantes de la bibliografía publicada hasta el momento sobre esta entidad clínica. Caso clínico. Niña de 10 años y 6 meses de edad con criterios diagnósticos de PANDAS, con presentación clínica de inicio brusco, de características coreicas y sintomatología ansiosa de tipo obsesivo-compulsivo. La mejoría clínica es muy marcada tras la administración de penicilina oral durante 10 días. Hay antecedentes familiares de enfermedad autoinmune con anticuerpos antifosfolípidos a títulos muy altos. Conclusión. El cuadro evoluciona posteriormente con recaídas, aparece una diabetes probablemente secundaria a la administración de corticoides y se detectan títulos elevados de anti-glutámico descarboxilasa (anti-GAD), fenómenos que son revisados según la hipótesis de un mecanismo de tipo autoinmune en función de los diferentes hallazgos clínicos y de laboratorio de esta paciente (AU)

Summary. Introduction. The disorder known as ‘PANDAS syndrome’ (paediatric autoimmune neuro-psychiatric disorders associated with Streptococci) consists in an abrupt onset of obsessive-compulsive symptoms and/or movement disorders, a pre-puberal onset, and an episodic course. Antibiotic therapy has been postulated as a first choice therapeutic option. A summarised review of main literature on this topic is presented. Case report. A girl, 10 years and 6 months old, with a dramatic clinical onset of a chorea-like and obsessive-compulsive symptomathology with a remarkable improvement after 10 days penicillin p.o. intake. She has a positive family history of autoimmune disorders, with elevated anti-phospholipidic antibodies. Conclusion. The implications of the case follow-up with many relapses, the development of a diabetes after corticoid therapy and the elevated anti glutamic dexcarboxilasa (anti-GAD) are discussed regarding a common underlying autoimmune mechanism (AU)

The effects of opioid receptor blockade on experimental panic provocation with CO2.

Several reports have linked, among other aspects, the role of an opioid system in respiratory physiology with underlying mechanisms of panic attacks. The involvement of the opioid system in experimental panic is to be further probed. This study aimed to determine whether opioid blockade would increase panic-related symptomatology on provocation with 35% CO2 inhaled by healthy volunteers. Participants in a double-blind, randomised crossover design orally received either 50 mg of naltrexone or placebo. Most subjects undertook a double inhalation of 35% CO2 one hour after pre-medication, and a separate group did so after five hours. The reactivity to CO2 and the symptoms elicited by naltrexone alone were measured. Among other findings, naltrexone pre-medication alone elicited significant increments in panic-related symptoms. Responses to CO2 were not significantly different between conditions in either group. These preliminary findings suggest that exposure to opioid blockade alone can potentially elicit symptoms that resemble panic, however, without modifying the response to experimental panic provocation with 35% CO2.

Feasibility and interpretation of FE(NO) measurements in asthma patients in general practice.

BACKGROUND: Exhaled NO (FE(NO)) is a useful biomarker for the monitoring of asthma control and response to therapy. However, there is a lack of data on FE(NO) levels and their interpretation in Primary Care asthma population depending on their treatment and smoking habit. Besides, the majority of current FE(NO) tests have been done by stationary chemiluminescence analysers whose use is limited to research laboratories. METHODS: FE(NO) measurements by the novel hand-held NO monitoring device (NIOX MINO) were made in 96 asthma patients (32 males, mean age 53+/-12) at five local General Practices during their scheduled 15-20 min visits for lung function assessment. RESULTS: Success rate was 78% and the intra-subject coefficient of variation was 8.7%. Inhaled corticosteroid treatment had an overall reducing effect on the FE(NO) value (30.5 [19.8-49.8]) vs. patients not on the ICS (26.5 [19-94]) (p<0.044). FE(NO) levels in the ICS treated current or ex-smokers group of patients were still significantly above the normal values (p<0.0001). FE(NO) levels were similar in patients receiving ICS whether there were current, ex-smokers or non-smokers. The highest FE(NO) levels (94 [15.8-151]) were found in asthmatic current smokers and not receiving treatment with ICS. The most "normalised" FE(NO) levels (35.3 [13.5-35.3]) were seen in ex-smokers. CONCLUSIONS: FE(NO) measurements performed with a new hand-held monitoring device are reproducible and feasible in General Practice in the majority of patients of different ages and asthma severities. A high percentage of patients with different severities of asthma and regardless of their treatment with ICS and current smoking habit (current and/or ex-smokers) had highly elevated FE(NO) values, suggesting that their current therapy was possibly insufficient to control the underlying degree of airway inflammation and asthma symptoms.

Aneurisma femoral bilateral en síndrome de Behcet: a propósito de un caso / Bilateral femoral aneurysm in Behçet syndrome: a case report

Introducción. La enfermedad de Behçcet es una vasculitis sistémica de etiología desconocida, que afecta generalmente a adultos jóvenes y que puede producir manifestaciones sistémicas oftálmicas, neurológicas, cardíacas, pulmonares, vasculares y renales, que con frecuencia son la causa final de muerte en estos pacientes. Las complicaciones vasculares incluyen trombosis arterial y venosa y aneurismas de arterias pulmonares y sistémicas. El diagnóstico se establece exclusivamente por criterios clínicos, ya que no existen tests de laboratorio específicos de la enfermedad. Caso clínico. Varón de 45 años, con criterios clínicos de enfermedad de Behçet (antecedente de uveítis, aftas orales y úlceras genitales), que presentaba sendos aneurismas de la arteria femoral común derecha y de la arteria femoral superficial izquierda. Se descartaron otras alteraciones vasculares en el estudio preoperatorio. El paciente fue intervenido quirúrgicamente en dos tiempos. Inicialmente se procedió a la resección del aneurisma de la arteria femoral común y a la interposición de injerto venoso. Posteriormente se procedió a la exclusión endovascular en el postoperatorio inmediato ni a lo largo del seguimiento. Conclusión. La enfermedad de Behçet se asocia con frecuancia a manifestaciones vasculares a diferentes niveles, siendo comunes los aneurismas arteriales en localizaciones atípicas. Estos pacientes pueden beneficiarse de técnicas tanto quirúrgicas convencionales como endovasculares, incluso en el mismo paciente, por lo que cada caso debe abordarse de forma individualizada

Introduction. Behçet disease is a systemic vasculitis of unknown origin, which usually set on young adults and produce ophthalmic, neurological, cardiac, pulmonary, vascular and renal manifestations. These all are frequently the cause of death in these patients. Vascular complication include arterial and venous thrombosis and aneurysms of pulmonary and systemic arteries. Diagnosis can be only established by clinical criteria, no laboratory tests are available. Case report. Male, 45 years old, with clinical criteria for diagnosis of Behçet disease (uveitis, oral and genital lesions) who presents with right common femoral and left superficial femoral arteries aneurysms. No other vascular disease was found. The surgical approach was in two times. First, the resection of the right common femoral artery aneurysm and interposition of a venous graft. Afterwards, the endovascular exclusion of the left aneurysm with an endoprothesis 7 x 15 mm. No complicatios on immediate postoperative of follow-up. Conclusion. Behçet disease frequently associates with vascular manifestations at various levels, and arterial aneurysm on atypical localization are common. These patients can get a benefit with either open surgical techniques or endovascular procedures, that´s why each case must be considered individually

Jacob's disease: report of two cases and review of the literature.

Jacob's disease is a rare condition consisting of new joint formation between the coronoid process of the mandible and the inner aspect of the zygomatic arch. Strictly speaking, it was first described by the French anatomist Oscar Jacob in 1899, although in 1853 von Langenbeck had described coronoid process hyperplasia. The pathogenesis of both conditions remains unknown. In this paper we present two new cases and a complete review of the literature on Jacob's disease, of which we have found only 12 cases. Due to the low prevalence of this condition, its diagnosis is not straight forward.

Erythema after laser skin resurfacing.

Erythema after laser skin resurfacing is seen by many as a necessary evil in order to get good results from the procedure. A critical review of widely accepted concepts may lead to diminishing the length of postoperative erythema in patients undergoing laser resurfacing. The authors report on two previously unrecognized factors in the causation of this problem.