Reumatismo tuberculoso «enfermedad de Poncet». Reporte de caso

ResumenAntecedentesLas muertes por tuberculosis a nivel mundial han superado los 2,5 millones de casos por año. La enfermedad de Poncet es una forma poco frecuente de tuberculosis, caracterizada por un cuadro de poliartritis.Caso clínicoVarón de 24 años de edad, quien presentó rigidez matinal, artralgias, artritis bilateral simétrica de interfalángicas proximales, carpos, rodillas, tobillos, hombros y adenomegalias a nivel cervical, submandibular, supraclavicular izquierda, axilar e inguinal, sin fiebre. Resultados de laboratorio: velocidad de sedimentación globular 44mm/hora, proteína C reactiva 4.35, niveles de complemento C3 y C4 normales, factor reumatoide y anticuerpos anti-péptido C citrulinado negativos, anticuerpos antinucleares positivos con patrón moteado fino 1:320 y citoplásmico 1:160; anticuerpos anti-Smith, anti-ADN de doble cadena, antígeno A de síndrome de Sjogren's y antígeno B de síndrome de Sjogren's negativos. Reporte histológico del tejido ganglionar cervical con lesiones granulomatosas compatibles con tuberculosis. Se descartaron artritis reumatoide y lupus eritematoso sistémico. Se inició tratamiento antifímico remitiendo el cuadro clínico. Se concluyó el diagnóstico de enfermedad de Poncet.ConclusiónEl diagnóstico diferencial entre tuberculosis y enfermedades articulares inflamatorias de etiología autoimune es un reto clínico.AbstractBackgroundDeaths due to tuberculosis have reached 2.5 million cases per year worldwide. Poncet's disease is an infrequent form of tuberculosis characterised by a clinical picture of polyarthritis.Clinical caseA 24-year-old male presented with morning stiffness, arthralgias, bilateral symmetric arthritis of the proximal interphalangeal joints, wrists, knees, ankles, and shoulders, and adenomegalies at the cervical, submandibular, left supraclavicular, axillary and inguinal levels, without fever. Laboratory results were as follows: ESR 44mm/h, C-reactive protein 4.35, normal levels of complement C3 and C4, negative rheumatoid factor and anticyclic citrullinated peptide antibodies, positive antinuclear antibodies with fine speckled pattern (1:320) and cytoplasm (1:160) pattern and negative anti-Smith, -double-stranded DNA, Sjogren's syndrome-antigen A and Sjogren's syndrome-antigen B. Histological report of cervical node tissue revealed granulomatous lesions compatible with tuberculosis. Rheumatoid arthritis and systemic lupus erythematosus were ruled out. Anti-tuberculosis agents were initiated that resolved the clinical picture. Diagnosis of Poncet's disease was confirmed.ConclusionThe differential diagnosis between tuberculosis and autoimmune inflammatory joint diseases is a clinical challenge

ELANE rs17223045C/T and rs3761007G/A variants: Protective factors against COVID-19

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is responsible for causing coronavirus disease 2019 (COVID-19). The development and severity of this infectious disease is influenced by a combination of environmental and genetic factors. Angiotensin-converting enzyme 2 (ACE2) facilitates SARS-CoV-2 entry into human cells, with transmembrane serine protease 2 (TMPRSS2) playing a crucial role in S protein priming. Other proteases, such as cathepsin L and elastase, neutrophil-expressed (ELANE), have the capability to prime the S protein and contribute to SARS-CoV-2 infection. ELANE variants have not been previously examined in COVID-19 patients. We aimed to assess the association of single nucleotide variants (SNVs) within ELANE with COVID-19 and biochemical markers. The study included 319 SARS-CoV-2-infected patients and 288 controls. Genotyping of ELANE rs17216663C/T (Pro257Leu), rs17223045C/T (As1n30Asn), and rs3761007G/A was conducted using a 5'-nuclease allelic discrimination assay (TaqMan assay). Our findings indicate that ELANE rs17223045C/T (C vs T: odds ratio [OR] 0.08, P = 0.005, and CC vs CT: OR 0.08, P = 0.005) and rs3761007G/A (G vs A: OR 0.38, P = 0.009, and GG vs GA: OR 0.40, P = 0.008) confer protection against COVID-19. However, these variants were not associated with biochemical markers. In conclusion, our data suggests that ELANE rs17223045C/T and rs3761007G/A SNVs may play a protective role against COVID-19

Coexistencia entre polimiositis y enfermedad de Castleman; presentación de un caso

La coexistencia entre la enfermedad de Castleman y polimiopatia inflamatoria idiopática es poco conocida por cuanto existe pocos casos referentes a estas dos patologías juntas. Las características histopatológicas de los nódulos linfáticos asociados en estas dos entidades son similares, haciendo su diferenciación más difícil. La resolución quirúrgica del tumor conlleva, en la mayoría de casos a la mejoría de las manifestaciones autoinmunes, aunque en ciertos casos, el uso de glucocorticoides, radioterapia, quimioterapia y tratamiento biológicos pueden ser usados cuando la opción quirúrgica no es suficiente. Se propone como parte de la fisiopatología de la enfermedad de Castleman, compartida en ciertas enfermedades autoinmunes, la inmunoactivación celular asociada con niveles altos de interleukina 6 y otros reactantes de fase aguda, así como ciertos procesos infecciosos como el virus de inmunodeficiencia adquirida y el virus del Epstein-Barr. Se presenta el caso de una mujer de 17 años con diagnóstico de enfermedad de Castleman variante hialino vascular y polimiositis

Esclerodermia y alteraciones esofágicas documentadas por manometría en Servicio de Reumatología del hospital Juárez de México de enero a junio de 2014

Introducción: la esclerosis sistémica presenta complicaciones esofágicas hasta en el 96 % de los casos. El diagnóstico de los trastornos motores se basa en la manometría. Objetivo: describir los síntomas del tracto gastrointestinal superior y evaluar la motilidad esofágica en pacientes con esclerosis sistémica. Materiales y métodos: se realizó una serie de casos que incluyó a 24 pacientes con esclerosis sistémica. Las manifestaciones clínicas se obtuvieron de los expedientes clínicos y se realizó manometría esofágica. Resultados: los 24 pacientes fueron de sexo femenino (100 %), con edad promedio 53.5 años y evolución de la enfermedad de 5.8 años. También los 24 pacientes (100 %) presentaron síntomas gastrointestinales superiores. En la manometría el promedio de la presión basal del esfínter esofágico superior fue de 32.59 mmHg. (DS ±6.78) con presión residual de 0.95 mmHg. (DS ±16.29) y amplitud de ondas del cuerpo esofágico de 14.01 mmHg. (DS ±7.06). La presión basal del esfínter esofágico inferior fue de 8.85 mmHg. (DS ±10.71) con presión residual del de 1.28 mmHg. (DS ±16.06), con porcentaje del índice de relajación del 15.79% y con ondas no transmitidas del 91.2 %. Discusión: los síntomas descritos del tracto gastrointestinal superior y los trastornos motores esofágicos son similares a los reportados en la literatura; en el presente estudio fue común la hipotensión del esfínter esofágico inferior y la aperistalsis esofágica, favoreciendo el desarrollo de complicaciones. La manometría es esencial para el diagnóstico temprano de la dismotilidad esofágica en la esclerosis sistémica así como para la prevención de sus complicaciones. Actualmente no hay estándares de guías clínicas que recomienden la vigilancia especializada por manometría

ITGAM is a risk factor to systemic lupus erythematosus and possibly a protection factor to rheumatoid arthritis in patients from Mexico.

IntroductionITGAM has consistently been associated with susceptibility to systemic lupus erythematosus (SLE) in many ethnically diverse populations. However, in populations with higher Amerindian ancestry (like Yucatan) or highly admixed population (like Mexican), ITGAM has seldom been evaluated (except few studies where patients with childhood-onset SLE were included). In addition, ITGAM has seldom been evaluated in patients with rheumatoid arthritis (RA). Here, we evaluated whether four single nucleotide polymorphisms (SNPs), located within ITGAM, were associated with SLE and RA susceptibility in patients from Mexico.MethodsOur study consisted of 1,462 individuals, which included 363 patients with SLE (292 from Central Mexico and 71 from Yucatan), and 621 healthy controls (504 from Central Mexico and 117 from Yucatan). Our study also included 478 patients with RA from Central Mexico. TaqMan assays were used to obtain the genotypes of the four SNPs: rs34572943 (G/A), rs1143679 (G/A), rs9888739 (C/T), and rs1143683 (C/T). We also verified the genotypes by Sanger sequencing. Fisher's exact test and permutation test were employed to evaluate the distribution of genotype, allele, and haplotype between patients and controls.ResultsOur data show that all four ITGAM SNPs are significantly associated with susceptibility to SLE using both genotypic and allelic association tests (corrected for multiple testing, but not for population stratification). A second study carried out in patients from Yucatan, a southeastern part of Mexico (with a high Amerindian ancestry), also replicated SLE association with all four SNPs, including the functional SNP, rs1143679 (OR = 24.6 and p = 9.3X10-6). On the other hand, none of the four SNPs are significant in RA after multiple testing. Interestingly, the GACC haplotype, which carries the ITGAM rs1143679 (A) minor allele, showed an association with protection against RA (OR = 0.14 and p = 3.0x10-4).ConclusionOur data displayed that ITGAM is a risk factor to SLE in individuals of Mexican population. Concurrently, a risk haplotype in ITGAM confers protection against RA

Impacto en la salud mental en una muestra de pacientes hospitalizados por COVID-19 en la Ciudad de México.

One of the consequences of pandemic is the increase in the prevalence of mental alterations such as anxiety, depression and stress. Since here, we aimed to determinate through a transversal and observa-tional study prevalence of stress, anxiety and depression within hospital-ized patients by COVID-19 as well as their likely association with the emo-tional impact received by relatives with hospitalized patients by COVID-19. Forty-five COVID-19 hospitalized patients with mean age of 54.4 ± 9.6 years and fifty-five relatives with mean age of 43.2 ± 11.8 years an-swered a questions battery and DASS-21 survey. Our results revealed high prevalence of depression, anxiety and stress assessed by DASS-21 sub-scales. We also identified risk factors associated with the emotional health such as age (< 50 years: depression OR = 2.99 [1.31, 6.80], p < .05 and anxiety OR = 2.83 [1.15, 6.93], p < .05), by gender (female: anxiety OR = 4.13 [1.57, 10.89], p < .05 and stress OR = 5.38 [2.27, 12.8], p < .05), by group of study (relatives: depression OR = 3.83 [1.63, 8.96]; p < .05, anxie-ty OR = 3.60 [1.46, 8.88]; p < .05 and stress OR = 3.30 [1.41, 7.70]; p < .05). Additionally, female gender and low socioeconomic status in patients (β = 3.23; 1.96) and relatives (β = 1.86; 2.31) were associated with higher scores in anxiety (p < .05) and stress (p < .05). We concluded that our sample of COVID-19 patients maintain a high prevalence of mental altera-tions and age, gender and socioeconomic status modify the magnitude of these disorders.Una de las consecuencias de la pandemia es el aumento de la prevalencia de alteraciones mentales como la ansiedad, la depresión y el es-trés. En este estudio transversal y observacional se evaluó la prevalencia de estrés, ansiedad y depresión en pacientes hospitalizados por COVID-19 así como la probable asociación con el impacto emocional recibido por fami-liares de pacientes hospitalizados por COVID-19. Cuarenta y cinco pacien-tes hospitalizados por COVID-19 con una edad promedio de 54.4 ± 9.6 años y cincuenta y cinco familiares de pacientes hospitalizados con una edad promedio de 43.2 ± 11.8 años respondieron una batería de preguntas y la encuesta DASS-21. Nuestros resultados revelaron una alta prevalencia de depresión, ansiedad y estrés identificados por DASS-21. En este estudio identificamos factores de riesgo asociados a la salud emocional como la edad (< 50 años: depresión RM = 2.99 [1.31, 6.80] p < .05 y ansiedad RM = 2.83 [1.15, 6.93], p < .05), el género (mujeres: ansiedad RM = 4.13 [1.57, 10.89], p < .05 y estrés RM = 5.38 [2.27, 12.8], p < .05) y el grupo de estu-dio (familiares: depresión RM = 3.83 [1.63, 8.96]; p < .05 , ansiedad RM = 3.60 [1.46, 8.88]; p < .05 y estrés RM = 3.30 [1.41, 7.70]; p < .05). Además, el género femenino y el nivel socioeconómico bajo de los pacientes (β = 3.23; 1.96) y familiares (β = 1.86; 2.31) se asociaron con puntuaciones más altas en ansiedad (p < .05) y estrés (p < .05). Concluimos que la muestra de pacientes con COVID-19 mantiene una alta prevalencia de alteraciones mentales y que algunos factores sociodemográficos se asocian con la mag-nitud de estos trastornos

The rs8176740 T/A and rs512770 T/C Genetic Variants of the ABO Gene Increased the Risk of COVID-19, as well as the Plasma Concentration Platelets

We conducted a case-control study in order to evaluate whether ABO gene polymorphisms were associated with a high risk of developing COVID-19 in a cohort of patients. Six ABO gene polymorphisms (rs651007 T/C, rs579459 T/C, rs495828 T/G, rs8176746 A/C, rs8176740 T/A, and rs512770 T/C) were determined using TaqMan genotyping assays in a group of 415 COVID-19 patients and 288 healthy controls. The distribution of rs651007 T/C, rs579459 T/C, rs495828 T/G, and rs8176746 A/C polymorphisms was similar in patients and healthy controls. Nonetheless, under co-dominant (OR = 1.89, pCCo-dominant = 6 &times; 10&minus;6), recessive (OR = 1.98, pCRecessive = 1 &times; 10&minus;4), and additive (OR = 1.36, pCAdditive = 3 &times; 10&minus;3) models, the TT genotype of the rs8176740 T/A polymorphism increased the risk of developing COVID-19. In the same way, under co-dominant, recessive, and additive models, the TT genotype of the rs512770 T/C polymorphism was associated with a high risk of developing COVID-19 (OR = 1.87, pCCo-dominant = 2 &times; 10&minus;3; OR = 1.87, pCRecessive = 5 &times; 10&minus;4; and OR = 1.35, pCAdditive = 4 &times; 10&minus;3, respectively). On the other hand, the GTC and GAT haplotypes were associated with a high risk of COVID-19 (OR = 5.45, pC = 1 &times; 10&minus;6 and OR = 6.33, pC = 1 &times; 10&minus;6, respectively). In addition, the rs8176740 TT genotype was associated with high-platelet plasma concentrations in patients with COVID-19. Our data suggested that the ABO rs512770 T/C and rs8176740 T/A polymorphisms increased the risk of developing COVID-19 and the plasma concentration of platelets