Síndrome metabólico y aterosclerosis carotídea subclínica en niños y adolescentes mexicanos con acantosis nigricans.

INTRODUCCIÓN: La acantosis nigricans es un marcador de resistencia a la insulina, la cual se asocia con alteraciones metabólicas y cardiovasculares. OBJETIVO: Investigar la frecuencia de síndrome metabólico y aterosclerosis carotídea subclínica en niños y adolescentes mexicanos con acantosis nigricans y comparar los resultados entre sexos. MÉTODO: Estudio transversal. Se incluyeron 30 sujetos masculinos y 30 femeninos con diagnóstico de acantosis nigricans, menores de 18 años. Se investigó síndrome metabólico (criterios de Cook), riesgo cardiovascular (proteína C reactiva ultrasensible [PCRus]) y aterosclerosis carotídea (grosor íntima-media). Para el análisis de datos se utilizó estadística descriptiva e inferencial. RESULTADOS: La frecuencia de síndrome metabólico fue de 43 % (sexo masculino 42 % versus femenino 58 %, p = 0.58). Todos presentaron niveles anormales de PCRus: 67 % fue clasificado con riesgo cardiovascular moderado y 27 % con riesgo alto. Frecuencia de aterosclerosis carotídea 98 % (masculino 49 % versus femenino 51 %, p = 0.45). La severidad de la acantosis nigricans no influyó en los resultados. CONCLUSIONES: La búsqueda intencionada de síndrome metabólico y aterosclerosis carotídea subclínica en niños y adolescentes mexicanos con acantosis nigricans, independientemente del sexo o severidad de la enfermedad, permitirá implementar medidas para disminuir la morbimortalidad en la edad adulta. INTRODUCTION: Acanthosis nigricans is a marker of insulin resistance that is associated with metabolic and cardiovascular alterations. OBJECTIVE: To investigate the frequency of metabolic syndrome and subclinical carotid atherosclerosis in children and adolescents with acanthosis nigricans, and to compare the results between genders. METHOD: Cross-sectional study, where 30 male and 30 female subjects younger than 18 years of age diagnosed with acanthosis nigricans were included. The presence of metabolic syndrome (Cook's criteria), cardiovascular risk (ultrasensitive C-reactive protein and [us-CRP]), and carotid atherosclerosis (intima-media thickness [IMT]) was investigated. Descriptive and inferential statistics was used for data analysis. RESULTS: The frequency of metabolic syndrome was 43% (males 42 % versus females 58%, p = 0.58). All patients showed us-CRP abnormal levels: 67% were classified with moderate cardiovascular risk and 27% with high risk. The prevalence of carotid atherosclerosis was 98% (males 49% versus females 51%, p = 0.45). Acanthosis nigricans severity did not influence on the results. CONCLUSIONS: Intentional search for metabolic syndrome and subclinical carotid atherosclerosis in Mexican children and adolescents with acanthosis nigricans, regardless of gender or disease severity, will enable the implementation of measures to decrease the morbidity and mortality seen in adult age.

Family dynamics and adherence to tuberculosis treatment in pediatric patients. / Dinámica familiar y adherencia al tratamiento en pacientes pediátricos con tuberculosis.

BACKGROUND: There are no studies evaluating family dynamics in pediatric population with tuberculosis. Neither treatment adherence has been measured, even though patient non-adherence is a public health problem, especially in chronic infectious diseases. OBJECTIVE: To assess family dynamics and treatment adherence in pediatric patients with pulmonary and extrapulmonary tuberculosis from an Infectious Diseases Service in Mexico. MATERIAL AND METHODS: Descriptive cross-sectional study, conducted from May to July 2015, with 17 patients aged eight to fifteen years -old with tuberculosis. Three instruments in Spanish were applied: family dynamics was measured with the Family APGAR questionnaire, adapted for children aged eight years-old and above; treatment adherence was measured with the Haynes-Sackett and the Morisky-Green-Levine tests. RESULTS: In 76.4% of cases, extrapulmonary tuberculosis was higher than pulmonary tuberculosis (23.5%); the most common clinical form was ganglion tuberculosis. Family functionality (94.1%) dominated over moderate dysfunction (5.8%) and severe dysfunction (0%). High adherence to antituberculosis treatment was 58.8% more prominent than the moderate one (29.4%) and the low one (11.7%). The rate of patient abandonment was only 5.8%. CONCLUSIONS: Findings suggest incorporating the evaluation of family dynamics within the medical controls of the antituberculosis treatment, both in the first level of care and in the hospital. This provision may help to promote high treatment adherence.

INTRODUCCIÓN: No existen estudios que evalúen la dinámica familiar en población pediátrica con tuberculosis. Tampoco se ha medido la adherencia al tratamiento, a pesar de que la no adherencia es un problema de salud pública especialmente en enfermedades crónicas infecciosas. OBJETIVO: Evaluar la dinámica familiar y la adherencia al tratamiento de pacientes pediátricos con tuberculosis pulmonar y extrapulmonar de un servicio de infectología en México. MATERIAL Y MÉTODOS: Estudio transversal descriptivo en el que participaron, de mayo a julio de 2015, 17 pacientes de 8 a 15 años con tuberculosis. Se aplicaron tres instrumentos en español: la dinámica familiar se midió con el cuestionario APGAR familiar adaptado para niños de 8 años en adelante y la adherencia al tratamiento con la prueba de Haynes-Sackett y la prueba de Morisky-Green-Levine. RESULTADOS: La tuberculosis extrapulmonar superó con el 76.4% de los casos a la tuberculosis pulmonar (23.5%); la forma clínica de tuberculosis más frecuente fue la ganglionar. La funcionalidad familiar (94.1%) predominó sobre la disfunción moderada (5.8%) y la disfunción grave (0%). La alta adherencia al tratamiento antituberculoso rebasó con el 58.8% a la moderada (29.4%) y a la baja (11.7%). La tasa de abandono del tratamiento apenas fue del 5.8%. CONCLUSIONES: Los hallazgos sugieren que se debe evaluar la dinámica familiar dentro de los controles médicos del tratamiento antifímico, tanto en el primer nivel de atención como en el hospital. Esta disposición ayudaría a promover una adherencia alta al tratamiento.

Whole-exome sequencing in three children with sporadic Blau syndrome, one of them co-presenting with recurrent polyserositis.

Blau syndrome (BS) is a rare, chronic autoinflammatory disease with onset before age 4 and mainly characterised by granulomatous arthritis, recurrent uveitis, and skin rash. Sporadic (also known as early-onset sarcoidosis) or familial BS is caused by gain-of-function mutations in the NOD2 gene, which encodes for a multi-task protein that plays a crucial role in the innate immune defense. We report on three Mexican patients clinically diagnosed with BS who exhibited a likely pathogenic variant in NOD2 as revealed by whole-exome sequencing (WES) and Sanger sequencing: two variants (c.1000 C > T/p.Arg334Trp and c.1538 T > C/p.Met513Thr) lie in the ATP/Mg2+ binding site, whereas the other (c.3019dupC/p.Leu1007ProfsTer2) introduces a premature stop codon disrupting the last LRR domain (LRR9) formation; all three variants are consistent with gain-of-function changes. Interestingly, all these patients presented concomitant likely pathogenic variants in other inflammatory disease-related genes, i.e. TLR10, PRR12, MEFV and/or SLC22A5. Although the clinical presentation in these patients included the BS diagnostic triad, overall it was rather heterogeneous. It is plausible that this clinical variability depends partly on the patients' genetic background as suggested by our WES results. After this molecular diagnosis and given the absence of NOD2 mutations (demonstrated in two trios) and related symptoms in the respective parents (confirmed in all trios), patients 1 and 2 were considered to have sporadic BS, while patient 3, a sporadic BS-recurrent polyserositis compound phenotype. Altogether, our observations and findings underscore the overlapping among inflammatory diseases and the importance of determining the underlying genetic cause by high-throughput methods. Likewise, this study further reinforces a pathogenic link between the here found NOD2 variants and BS and envisages potential additive effects from other loci in these, and probably other patients.

Nontropical pyomyositis in an immunocompetent host.

Pyomyositis is a primary infection of the striated muscle. We describe the clinical and imaging features of 2 cases with nontropical pyomyositis in immunocompetent hosts. Staphylococcus aureus was the causative agent; the treatment included antibiotics and either computed tomography or magnetic resonance-guided percutaneous needle drainage, avoiding open drainage. This treatment modality was successful with complete recovery of movement. Because of the rarity of pyomyositis in temperate climates, the common lack of specific signs or symptoms, and the frequent negative blood cultures, considerable delay precedes the diagnosis. Fever, elevated erythrocyte sedimentation rate, and muscle stiffness are diagnostic clues. Increased awareness, especially in immunocompetent hosts, should lead to earlier diagnosis and treatment with improved outcomes. Diagnosis and treatment can be reached at the same time in some cases by image-guided percutaneous drainage.

Síndrome de Muchausen: reto al diagnóstico / Munchausen's Syndrome: A diagnostic challenge

El síndrome de Munchausen es una variante de enfermedad facticia crónica que se caracteriza por signos y síntomas físicos producidos intencionalmente por el paciente sin ganancia aparente. Recibe múltiples sinónimos tales como, adicción hospitalaria, síndrome del paciente profesional y en el contexto dermatológico, dermatitis artefacta o facticia. El síndrome de Munchausen puede simular condiciones diversas como dolor abdominal agudo, síndrome hemorrágico, alteraciones reumatológicas, fiebre o lesiones cutáneas. Informamos el caso de pacientes del sexo femenino de 28 años de edad, quien fue estudiada durante tres años en un medio hospitalario por presentar úlcer hemorrágica en rodilla izquierda que condicionó síndrome anémico crónico. Fue sometida a múltiples exámenes de laboratorio y gabinete con resultados normales y a diversos procedimientos terapéuticos sin resultado, por lo que se sospechó que existiera autoagresión. El diagnóstico se confirmó al inmovilizar la extremidad y confrontar a la paciente. El síndrome de Munchausen puede tener una amplia gama de manifestaciones que involucra a diversas especialidades de la medicina, por lo que el reconocimiento temprano de esta enfermedad puede evitar diagnósticos erróneos y tratamientos innecesarios

Escabiasis costrosa (Noruega) y SIDA: reporte de un caso y revisión de la literatura / Crusted scabies and AIDS: repor of a case and review

Se describe un paciente portador del síndrome de inmunodeficiencia adquirida que desarrolló escabiasis costrosa psoriasiforme con mínimo prurito. El frotis en fresco mostró múltiples parásitos. El tratamiento con lindano y queratolíticos fue ineficaz; con fenilbutazona. El diagnóstico temprano evita la diseminación de la enfermedad y sus complicaciones