Atypical patterns of STAT3 phosphorylation in subpopulations B cells in patients with common variable immunodeficiency.

BACKGROUND: Common Variable Immunodeficiency (CVID) is a heterogeneous disorder characterized by defective B cell differentiation and antibody production. Interleukin (IL)-21 activates STAT3, a potent regulator of B cell differentiation into plasma cells. We have studied the phosphorylation of STAT3 in CVID patients and its contribution to B cells subsets. METHODS: We studied 23 CVID patients and 14 healthy donors (HD), determining pSTAT3 in naïve and memory B cells, stimulated with IL-21 at 15 and 60 min. RESULTS: pSTAT3 was increased in total (p = 0.044), naïve (p = 0.023), and memory (p = 0.001) B cells at 60 min in CVID patients compared with HD. We classified patients by the percentage of isotype-switched memory B cells. We observed an increase in pSTAT3 at 60 min in memory B cells in both CVID groups of patients (p = 0.026, p = 0.007, respectively). Interestingly, the analysis of each group individually; demonstrated that patients with decreased memory B cells exhibited an increase in pSTAT3 at 60 min (p = 0.023), while HD had an expected decrease in pSTAT3 (p = 0.045). CONCLUSION: CVID patients showed an increased atypical of pSTAT3, which could affect the differentiation of B cells. Further studies in the IL-21 pathway are necessary to understand how this alteration could promote differentiation defects in patient B cells.

[Neurological manifestations in patients with severe COVID-19 in a tertiary care center]. / Manifestaciones neurológicas en pacientes con COVID-19 severo en un centro de tercer nivel de atención.

Background: The SARS-CoV-2 disease, called COVID-19, emerged in China has acquired pandemic dimensions. According to the WHO situational report of March 15, 2021, the global fatality rate is 2.2%; in Mexico, around 194 944 deaths have been confirmed by COVID-19. Studies in China identified that patients with severe COVID-19, when compared with those who had non-severe COVID-19, presented more severe neurological manifestations. Objective: To determine the frequency of neurological symptoms and manifestations in patients with severe COVID-19 in a tertiary care center. Material and methods: A cross-sectional, observational and analytical study was carried out at the Hospital de Especialidades del Centro Médico Nacional Siglo XXI, in patients hospitalized with severe COVID-19. Results: 183 cases were analyzed, of which 130 were men (71%). The median age was 55 years (IQR: 44-65). The neurological symptoms were: headache, anosmia and dysgeusia. Neurological manifestations occurred in 27 patients (16%), the most frequent was ischemic-type cerebrovascular disease (CVD) in 12 (44%), in patients older than 76.5 years vs. 54 years (p = 0.000), with history of cardiovascular disease. Conclusions: The most frequent neurological symptoms were headache, anosmia and dysgeusia. The most frequent neurological manifestation was ischemic CVD that appeared in older patients with severe COVID-19 with a history of cardiovascular disease.

Introducción: la enfermedad por SARS-CoV-2 denominada COVID-19 originada en China adquirió dimensiones pandémicas. De acuerdo con el reporte situacional de la OMS al 15 de marzo de 2021, la tasa de letalidad global es del 2.2%; en México se han confirmado alrededor de 194 944 defunciones por COVID-19. Estudios en China identificaron que los pacientes con COVID-19 severo, al compararlos con aquellos que cursaron con COVID-19 no severo, presentaron manifestaciones neurológicas más graves. Objetivo: determinar la frecuencia de síntomas y manifestaciones neurológicas en pacientes con COVID-19 severo en un centro de tercer nivel de atención. Material y métodos: estudio transversal, observacional y analítico, llevado a cabo en el Hospital de Especialidades del Centro Médico Nacional Siglo XXI, en pacientes hospitalizados con COVID-19 severo. Resultados: se analizaron 183 casos, de los cuales 130 eran hombres (71%). La mediana de edad fue de 55 años (RIC: 44-65). Los síntomas neurológicos fueron: cefalea, anosmia y disgeusia. Las manifestaciones neurológicas se presentaron en 27 pacientes, la más frecuente fue la enfermedad vascular cerebral tipo isquémica (EVC) en 12 pacientes (44%) en pacientes con mayor edad, 76.5 frente a 54 años (p = 0.000), y con antecedente de enfermedad cardiovascular. Conclusiones: los síntomas neurológicos más frecuentes fueron cefalea, anosmia y disgeusia. La manifestación neurológica más frecuente fue la EVC isquémica que se presentó en pacientes con COVID-19 severo de mayor edad y con antecedente de enfermedad cardiovascular.

Manifestaciones neurológicas en pacientes con COVID-19 severo en un centro de tercer nivel de atención / Neurological manifestations in patients with severe COVID-19 in a tertiary care center

Introducción: la enfermedad por SARS-CoV-2 denominada COVID-19 originada en China adquirió dimensiones pandémicas. De acuerdo con el reporte situacional de la OMS al 15 de marzo de 2021, la tasa de letalidad global es del 2.2%; en México se han confirmado alrededor de 194 944 defunciones por COVID-19. Estudios en China identificaron que los pacientes con COVID-19 severo, al compararlos con aquellos que cursaron con COVID-19 no severo, presentaron manifestaciones neurológicas más graves. Objetivo: determinar la frecuencia de síntomas y manifestaciones neurológicas en pacientes con COVID-19 severo en un centro de tercer nivel de atención. Material y métodos: estudio transversal, observacional y analítico, llevado a cabo en el Hospital de Especialidades del Centro Médico Nacional Siglo XXI, en pacientes hospitalizados con COVID-19 severo. Resultados: se analizaron 183 casos, de los cuales 130 eran hombres (71%). La mediana de edad fue de 55 años (RIC: 44-65). Los síntomas neurológicos fueron: cefalea, anosmia y disgeusia. Las manifestaciones neurológicas se presentaron en 27 pacientes, la más frecuente fue la enfermedad vascular cerebral tipo isquémica (EVC) en 12 pacientes (44%) en pacientes con mayor edad, 76.5 frente a 54 años (p = 0.000), y con antecedente de enfermedad cardiovascular. Conclusiones: los síntomas neurológicos más frecuentes fueron cefalea, anosmia y disgeusia. La manifestación neurológica más frecuente fue la EVC isquémica que se presentó en pacientes con COVID-19 severo de mayor edad y con antecedente de enfermedad cardiovascular.

Background: The SARS-CoV-2 disease, called COVID-19, emerged in China has acquired pandemic dimensions. According to the WHO situational report of March 15, 2021, the global fatality rate is 2.2%; in Mexico, around 194 944 deaths have been confirmed by COVID-19. Studies in China identified that patients with severe COVID-19, when compared with those who had non-severe COVID-19, presented more severe neurological manifestations. Objective: To determine the frequency of neurological symptoms and manifestations in patients with severe COVID-19 in a tertiary care center. Material and methods: A cross-sectional, observational and analytical study was carried out at the Hospital de Especialidades del Centro Médico Nacional Siglo XXI, in patients hospitalized with severe COVID-19. Results: 183 cases were analyzed, of which 130 were men (71%). The median age was 55 years (IQR: 44-65). The neurological symptoms were: headache, anosmia and dysgeusia. Neurological manifestations occurred in 27 patients (16%), the most frequent was ischemic-type cerebrovascular disease (CVD) in 12 (44%), in patients older than 76.5 years vs. 54 years (p = 0.000), with history of cardiovascular disease. Conclusions: The most frequent neurological symptoms were headache, anosmia and dysgeusia. The most frequent neurological manifestation was ischemic CVD that appeared in older patients with severe COVID-19 with a history of cardiovascular disease.

COVID-19 in the Context of Inborn Errors of Immunity: a Case Series of 31 Patients from Mexico.

INTRODUCTION: Patients with inborn errors of immunity (IEI) have a compromised or inappropriate immune response. Although they might be considered a high-risk group for severe SARS-CoV-2 infection, the reported impact of COVID-19 in these patients has been reassuring, while the differential susceptibility of distinct types of IEI remains unclear. OBJECTIVE: We aimed to describe the findings and outcomes of our known patients with IEI who were diagnosed with COVID-19. METHODS: In a retrospective study from March 2020 to February 2021, four centers in Mexico collected clinical, laboratory, and genetic data from pediatric and adult patients with known diagnoses of IEI who presented with COVID-19, based on compatible symptoms and positive SARS-CoV-2 testing or known household exposure. RESULTS: We report 31 patients with known IEI from Mexico who presented with SARS-CoV-2 infection. Seventy-four percent were male, 52% were pediatric, and 81% survived. Their ages ranged from 5 months to 56 years, with a median of 17 years. Sixty-five percent had predominant antibody deficiencies, 48% were hospitalized, and 26% required ICU. Pediatric patients had a higher hospital admission rate than adults. Inpatient mortality was 40%, and ICU mortality rate was 63%. Forty-eight percent developed pneumonia, while 36% had evidence of hyperinflammation (4 adults and 7 children). Predominant laboratory features were lymphopenia and thrombocytopenia, seen in 70 and 44% of patients, respectively. The serum D-dimer median value was 2.6 (0.5-20.6) µg/mL, and the median highest ferritin value was 1015 (32-10,303) ng/mL. Intravenous immunoglobulin was used in 80% of patients. Other treatments included macrolides (39%) and corticosteroids (29%). Six patients died from secondary infection or uncontrolled systemic inflammation. DISCUSSION: Although impaired immunity due to IEI may be a predisposing factor for severe COVID-19, most of our patients with IEI who acquired the SARS-CoV-2 infection developed a well-tolerated infection and survived, as have more than 80% of worldwide reported patients to date. An impaired immune or inflammatory response may be a predisposing factor for some and a protective factor for others. A systematic review of the literature could help identify those patients at risk of severe disease and complications. Healthcare-associated infections should be aggressively prevented.

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.

PURPOSE: Germline heterozygous mutations of GATA2 underlie a variety of hematological and clinical phenotypes. The genetic, immunological, and clinical features of GATA2-deficient patients with mycobacterial diseases in the familial context remain largely unknown. METHODS: We enrolled 15 GATA2 index cases referred for mycobacterial disease. We describe their genetic and clinical features including their relatives. RESULTS: We identified 12 heterozygous GATA2 mutations, two of which had not been reported. Eight of these mutations were loss-of-function, and four were hypomorphic. None was dominant-negative in vitro, and the GATA2 locus was found to be subject to purifying selection, strongly suggesting a mechanism of haploinsufficiency. Three relatives of index cases had mycobacterial disease and were also heterozygous, resulting in 18 patients in total. Mycobacterial infection was the first clinical manifestation in 11 patients, at a mean age of 22.5 years (range: 12 to 42 years). Most patients also suffered from other infections, monocytopenia, or myelodysplasia. Strikingly, the clinical penetrance was incomplete (32.9% by age 40 years), as 16 heterozygous relatives aged between 6 and 78 years, including 4 older than 60 years, were completely asymptomatic. CONCLUSION: Clinical penetrance for mycobacterial disease was found to be similar to other GATA2 deficiency-related manifestations. These observations suggest that other mechanisms contribute to the phenotypic expression of GATA2 deficiency. A diagnosis of autosomal dominant GATA2 deficiency should be considered in patients with mycobacterial infections and/or other GATA2 deficiency-related phenotypes at any age in life. Moreover, all direct relatives should be genotyped at the GATA2 locus.

[Actualidades en la inmunopatología de la esclerosis múltiple].

Multiple sclerosis is a demyelinating inflammatory disease that affects the central nervous system. Its etiology is the result of a complex interaction between genetic and environmental factors that trigger a deregulated immune response, with the resulting inflammation and neuronal/axonal degeneration. Neuroinflammation is triggered when peripheral leukocytes migrate to the central nervous system and release cytokines such as interleukins 1 and 6 (IL-1 and 6) and tumor necrosis factor (TNF), which act on dwelling cells. The innate immune system plays an important role in the onset and progression of the disease by identifying molecular patterns associated with pathogens and damage, which modulate effector and regulatory functions of the cells where they are expressed, in order to direct the specific immune response. Th17 cells favor the disruption of the blood-brain barrier, which enables the migration of leukocytes to the central nervous system and the triggering of the inflammatory cascade; the Th1 profile (IL-1, IL-6) collaborates to perpetuate it. B-cell function is to produce antibodies and cytokines (IL-6, IL-12 and TFN). Knowledge on multiple sclerosis pathophysiology will enable the development of new therapeutic options that impact on natural history of the disease and its prognosis.

La esclerosis múltiple es una enfermedad inflamatoria desmielinizante que afecta el sistema nervioso central. Su etiología es el resultado de una compleja interacción entre factores genéticos y ambientales que desencadenan una respuesta inmune desregulada, con la consiguiente inflamación y degeneración neuronal/axonal. La neuroinflamación se desencadena cuando los leucocitos periféricos migran al sistema nervioso central y liberan citocinas como interleucinas 1 y 6 (IL-1, IL-6) y factor de necrosis tumoral (TNF), que actúan sobre células residentes del mismo. El sistema inmune innato desempeña un papel importante en el inicio y progresión de la enfermedad, mediante la identificación de patrones moleculares asociados con patógenos y daño, que modulan las funciones efectoras y reguladoras de las células donde se expresan, para dirigir la respuesta inmune específica. Las células Th17 favorecen la disrupción de la barrera hematoencefálica, que permite la migración de leucocitos al sistema nervioso central y desencadena la cascada de la inflamación; el perfil Th1 (IL-1, IL-6) colabora para perpetuarla. La función de las células B es la producción de anticuerpos y citocinas (IL-6, IL-12 y TFN). Conocer la fisiopatología de la esclerosis múltiple permitirá desarrollar nuevas opciones terapéuticas que impacten en la historia natural de la enfermedad y su pronóstico.

Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains.

BACKGROUND: X-linked agammaglobulinemia (XLA) is characterized by the absence of immunoglobulin and B cells. Patients suffer from recurrent bacterial infections from early childhood, and require lifelong immunoglobulin replacement therapy. Mutations in BTK (Bruton's Tyrosine Kinase) are associated with this phenotype. Some patients that present XLA do not show typical clinical symptoms, resulting in delayed diagnosis due to the lack of a severe phenotype. This study presents a report of five XLA patients from four different families and attempts to determine a relationship between delayed diagnosis and the occurrence of BTK mutations. METHODS: Samples from patients with antibody deficiency were analyzed to determine BTK expression, immunophenotyping and mutation analysis. Clinical and laboratory data was analyzed and presented for each patient. RESULTS: Most patients presented here showed atypical clinical and laboratory data for XLA, including normal IgM, IgG, or IgA levels. Most patients expressed detectable BTK protein. Sequencing of BTK showed that these patients harbored missense mutations in the pleckstrin homology and Src-homology-2 domains. When it was compared to public databases, BTK sequencing exhibited a new change, along with three other previously reported changes. CONCLUSIONS: Delayed diagnosis and atypical manifestations in XLA might be related to mutation type and BTK expression.

Type and location of bronchiectasis in a cohort of adults with common variable immunodeficiency / Tipo y localización de bronquiectasias en una cohorte de adultos con inmunodeficiencia común variable

Background: Bronchiectasis are permanent dilatations of the bronchi. Its prevalence in patients with variable common immunodeficiency (CVID) is high, however there is little information regarding the type and location of the same; therefore the objective of this study is to know the type and location of bronchiectasis in a cohort of adult patients with CVID. Methods: It has been made a transversal, observational and descriptive study that included 32 adult patients with diagnosis of CVID according to the criteria of the European Society of Immunodeficiencies (ESID). All patients underwent high resolution pulmonary computed tomography (HRCT), which were interpreted by an expert radiologist. The frequency, type and location of bronchiectasis were reported using descriptive statistics. Results: Thirty-two adult patients, ten men (31.25%) and 22 women (68.7%), were included. 40.6% had bronchiectasis. 23% had a lobe involvement, 15.3% two lobes, 46.1% 3 lobes and 15.3% complete involvement of the parenchyma. The types of bronchiectasis were distributed as follows: tubular 38.4%, varicose 23% and cystic and tubular combinations 15.3%, cystic and varicose 15.3% and cystic, tubular and varicose 7.6%. Conclusions: Our results show that 40% of adult patients with CVID have BQs, usually affecting three pulmonary lobes, located mainly in the right and middle lower lobe; The tubular type, is the most common. Their timely diagnosis and treatment can improve survival and reduce costs for patients and health care.

Introducción: Las bronquiectasias (BQs) son dilataciones permanentes de los bronquios. Su prevalencia en pacientes con inmunodeficiencia común variable (IDCV) es alta, sin embargo existe escasa información respecto al tipo y localización de las mismas. El objetivo de este estudio es conocer el tipo y localización de las bronquiectasias en una cohorte de pacientes adultos portadores de IDCV. Métodos: Estudio transversal, observacional y descriptivo que incluyó a 32 pacientes adultos con diagnóstico de IDCV de acuerdo con los criterios de la Sociedad Europea de Inmunodeficiencias. A todos se les realizó tomografía de alta resolución pulmonar, las cuales fueron interpretadas por un médico radiólogo experto. Se reportó la frecuencia, tipo y localización de las bronquiectasias mediante estadística descriptiva.Resultados: se incluyeron 32 pacientes adultos, diez hombres y 22 mujeres. El 40.6% presentaron bronquiectasias. El 23% tenía afección en un lóbulo, el 15.3% dos lóbulos, 46.1% 3 lóbulos y el 15.3% afectación completa del parénquima; distribuidos de la siguiente manera: tubulares 38.4%, varicosas 23% y las combinaciones quísticas y tubulares 15.3%, quísticas y varicosas 15.3% y quísticas, tubulares y varicosas 7.6%. Conclusión: Nuestros resultados muestran que el 40% de los pacientes adultos con IDCV tienen BQs, suelen afectar tres lóbulos pulmonares, el tipo más común fue el tubular. Su diagnóstico y tratamiento oportuno puede mejorar la supervivencia y reducir los costos para el paciente y las instituciones de salud.

Invaginación intestinal como forma de presentación de linfoma no Hodgkin primario de colon en un paciente VIH positivo / Intussusception as clinical presentation of primary non-Hodgkin lymphoma of the colon in a HIV-patient

La invaginación (intususcepción) intestinal es una complicación poco frecuente en la población adulta, representando sólo del 1% al 5% de todas las causas de obstrucción intestinal. Es más frecuente en el intestino delgado, donde puede responder a causas inflamatorias, infecciosas o neoplásicas, y rara en el colon, en donde en el 50%-60% de los casos se origina en neoplasias subyacentes. El aparato digestivo es el sitio más común de localización de los linfoma no Hodgkin (LNH) extranodales, incluyendo del 5% al 20% del total de los mismos. Sin embargo, los LNH primarios del tracto gastrointestinal son entidades clínico-patológicas muy raras y representan sólo del 1% al 4% de todas las neoplasias del tubo digestivo. Los LNH primarios de colon son tumores muy infrecuentes y representan del 0,2% al 1,2% del total de las neoplasias colónicas. Se describe el caso de un paciente adulto con sida, que desarrolló una invaginación colónica secundaria a un linfoma difuso de grandes células B primario del colon transverso. Se revisan los hallazgos clínicos, imagenológicos e histopatológicos y se realiza una revisión de la literatura inglesa y española sobre este tema (AU)

Intestinal intussusception rarely occurs in the adult population and accounts only for 1% to 5% of all the causes of intestinal obstruction. This complication is more frequent in the small bowel and can be due to different aetiologies, including inflammatory, infectious or neoplastic diseases. Malignancies account for 50% to 60% of all cases of colon invagination. The gastrointestinal (GI) tract is the most common site for extra-nodal non-Hodgkin lymphomas (NHL), representing 5% to 20% of all the cases. However, primary NHL of the GI tract is a very infrequent clinic-pathological entity and accounts only for 1% to 4% of all the neoplasms of the GI tract. Primary NHL of the colon is a rare disease and it comprises only 0.2% to 1.2% of all colonic malignancies. Here we describe a case of an AIDS adult patient who developed an intussusception secondary to a primary large B cell lymphoma of the transverse colon. English and Spanish literature was reviewed (AU)

Impaired selective cytokine production by CD4(+) T cells in Common Variable Immunodeficiency associated with the absence of memory B cells.

Common Variable Immunodeficiency (CVID) is a primary immunodeficiency characterized by B cell dysfunction and decreased serum immunoglobulin. CVID patients are classified by the absence or presence of memory B cells. In addition, T cell defects have been demonstrated in only a proportion of CVID patients. The aim of this study was to evaluate the function of CD4(+) T cells from CVID patients and its association with memory B cells. Patients were classified according to their Freiburg groups: group Ia and Ib, with decreased switched memory B cells (<0.4 of PBL), and group II, with normal B cell subsets. Their T cell function was evaluated after stimulation. We observed normal and even increased CD4(+) T cell proliferation in group Ia (p=0.0277). The proliferation positively correlated with the clinical severity score (r=0.4796). We observed lower levels of IL-17A and IL-10 in group Ia (p=0.0177, 0.0109) and Ib (p=0.0009, 0.0084) patients. Group Ib patients also had low levels of IL-13 and IL-9 (p=0.0169, 0.010). Group II patients had similar cytokine production to that of the controls. BAFFR expression was reduced in groups Ia (p=0.0001) and Ib (p=0.0002) and showed an inverse correlation with the severity score (p=0.0262; r=0.5371). ICOS expression was reduced in group Ia (p=0.0364), and PD-1 was increased in group Ib (p=0.0432) patients. This study shows a selective impairment in cytokine production in group Ia patients, which was more extensive than in group Ib patients. The impairment was associated with BAFFR expression in B cells, with ICOS and PD-1 in T cells and, remarkably, with the absence of memory B cells and with the disease severity. Our results suggest that the evaluation of cytokine expression by T cells in combination with the study of B cell memory could be important for understand the pathogenesis of CVID patients.

[Primary pyomyositis. Review of 32 cases diagnosed by ultrasound]. / Piomiositis primaria. Revisión de 32 casos diagnosticados por ecografía.

Primary pyomyositis is a bacterial infection of striated muscle which is acquired by hematogenous route. It is related to risk factors such as HIV/aids and other immuno suppressing diseases, and can be associated with local muscle stress factors. The most frequent etiology is Staphylococcus aureus. Its diagnostic delay may cause a fatal evolution. In this series 32 patients with primary pyomyositis diagnosed by ultrasound were evaluated. The most frequent risk factor was HIV/aids (61%). Local factors were detected in 21 (66%) cases: first, the practice of football. The monofocal form was observed in 19 (59%), the most commonly affected muscles were quadriceps, calves and psoas. Samples for bacteriological study were obtained in 30 cases, 22 blood culture and 27 abscess materials. In 30 cases the etiologic agent was isolated. Staphylococcus aureus accounted for 83.3% (25 cases) and Escherichia coli, Nocardia spp., Streptococcus agalactiae, nontuberculous mycobacteria, Pseudomonas aeruginosa were isolated in one case each. Seventeen patients received surgical treatment, aspirative punctures, 9; antibiotics alone, 4. Twenty eight (93.3%) patients had a good evolution; deaths, 2 (6.6%); unknown, 2. Main conclusions of this study were: due to the diverse and changing etiology of the primary pyomyositis it is important to recognize the etiological agent involved and their antibiotic susceptibility. The ultrasound performed the study in real time so it can be used to guide the puncture and to facilitate the immediate diagnosis. This makes the difference with other techniques and transforms it into a first-line method for the study of this disease.

Intussusception as clinical presentation of primary non-Hodgkin lymphoma of the colon in a HIV-patient.

Intestinal intussusception rarely occurs in the adult population and accounts only for 1% to 5% of all the causes of intestinal obstruction. This complication is more frequent in the small bowel and can be due to different aetiologies, including inflammatory, infectious or neoplastic diseases. Malignancies account for 50% to 60% of all cases of colon invagination. The gastrointestinal (GI) tract is the most common site for extra-nodal non-Hodgkin lymphomas (NHL), representing 5% to 20% of all the cases. However, primary NHL of the GI tract is a very infrequent clinic-pathological entity and accounts only for 1% to 4% of all the neoplasms of the GI tract. Primary NHL of the colon is a rare disease and it comprises only 0.2% to 1.2% of all colonic malignancies. Here we describe a case of an AIDS adult patient who developed an intussusception secondary to a primary large B cell lymphoma of the transverse colon. English and Spanish literature was reviewed.

Piomiositis primaria: Revisión de 32 casos diagnosticados por ecografía / Primary pyomyositis. Review of 32 cases diagnosed by ultrasound

La piomiositis primaria es la infección bacteriana por vía hematógena del músculo estriado. Está relacionada con factores de riesgo como HIV/sida y otras enfermedades inmunodepresoras, pudiendo estar asociados a factores locales de estrés muscular. El agente etiológico más frecuente es Staphylococcus aureus. Su retardo diagnóstico puede ocasionar una evolución fatal. En esta serie se evaluaron 32 pacientes con piomiositis primaria diagnosticados por ecografía. El factor de riesgo más frecuente fue el HIV/sida (61%). Los factores locales se detectaron en 21 casos (66%): en primer lugar, la práctica de futbol. La forma monofocal se observó en 19 (59%) los músculos más frecuentemente afectados fueron cuádriceps, gemelos y psoas. Se obtuvieron muestras para estudio bacteriológico en 30 casos, 27 de material del absceso y 22 hemocultivos. En los 30 casos se aisló el agente etiológico. El Staphylococcus aureus representó el 83.3% (25 casos) y Escherichia coli, Nocardia spp., Streptococcus agalactiae, Micobacteria no tuberculosa y Pseudomonas aeruginosa fueron aislados en un caso cada uno. Recibieron tratamiento quirúrgico 17 pacientes, punciones aspirativas, 9; antibióticos solamente, 4. Presentaron buena evolución 28 de los 30 pacientes (93.3%), óbitos, 2 (6.6%); desconocida, 2. Este estudio concluyó que: ante la etiología diversa y cambiante de las piomiositis primarias es importante reconocer el agente involucrado y su sensibilidad antibiótica. La ecografía realiza la evaluación en tiempo real y puede ser utilizada como guía de punción facilitando el diagnóstico inmediato. Esto la diferencia de otras técnicas, transformándola en un método de primera línea para el estudio de esta enfermedad.

Primary pyomyositis is a bacterial infection of striated muscle which is acquired by hematogenous route. It is related to risk factors such as HIV/aids and other immuno suppressing diseases, and can be associated with local muscle stress factors. The most frequent etiology is Staphylococcus aureus. Its diagnostic delay may cause a fatal evolution. In this series 32 patients with primary pyomyositis diagnosed by ultrasound were evaluated. The most frequent risk factor was HIV/aids (61%). Local factors were detected in 21 (66%) cases: first, the practice of football. The monofocal form was observed in 19 (59%), the most commonly affected muscles were quadriceps, calves and psoas. Samples for bacteriological study were obtained in 30 cases, 22 blood culture and 27 abscess materials. In 30 cases the etiologic agent was isolated. Staphylococcus aureus accounted for 83.3% (25 cases) and Escherichia coli, Nocardia spp., Streptococcus agalactiae, nontuberculous mycobacteria, Pseudomonas aeruginosa were isolated in one case each. Seventeen patients received surgical treatment, aspirative punctures, 9; antibiotics alone, 4. Twenty eight (93.3%) patients had a good evolution; deaths, 2 (6.6%); unknown, 2. Main conclusions of this study were: due to the diverse and changing etiology of the primary pyomyositis it is important to recognize the etiological agent involved and their antibiotic susceptibility.The ultrasound performed the study in real time so it can be used to guide the puncture and to facilitate the immediate diagnosis. This makes the difference with other techniques and transforms it into a first-line method for the study of this disease.

[Desensitization to darunavir in a pediatric patient]. / Desensibilización a darunavir en un paciente pediátrico.

Treatment of HIV infection requires the combination of multiple antiretroviral drugs, known as highly active antiretroviral therapy (HAART); however, up to 84% of patients experience adverse drug effects that lead to discontinuation within first months of treatment. Skin manifestations are reported to 22% of patients. The severity of these is variable, such as erythema multiforme, rash, hives and severe skin reactions at less than 2%. Mild rashes, usually transient and self-limiting, while severe reactions require immediately remove the drug involved to prevent progression of the reaction. Only in those cases where the offending drug does not have another alternative and documented the reaction is mediated type I hypersensitivity mechanisms, can be performed desensitization protocol.

El tratamiento para infección por VIH requiere la combinación de múltiples fármacos antirretrovirales, conocida como Terapia Antirretroviral Altamente Activa (TARAA), sin embargo hasta el 84% de los pacientes presentan efectos adversos a los fármacos, que los llevan a suspender el tratamiento dentro de los primeros meses de tratamiento. Las manifestaciones cutáneas se reportan hasta el 22.1% de los pacientes. La severidad de éstas es variable, como eritema multiforme, exantema, urticaria y reacciones cutáneas severas en menos del 2%. Los exantemas leves, suelen ser transitorios y autolimitados, mientras que las reacciones severas requieren retirar el fármaco implicado inmediatamente para prevenir la progresión de la reacción. Solamente en aquellos casos que el fármaco responsable no cuente con otra alternativa y se documente que la reacción este mediada por mecanismos de hipersensibilidad tipo I, se puede realizar protocolo de desensibilización.

Uso del gerundio en los artículos científicos: un dilema de posible solución / The use of gerunds in scientific articles: A dilemma with a possible solution

La utilización del gerundio presenta dificultades para los autores de las diversas disciplinas médicas. Con el objetivo de contribuir a esclarecer algunas dudas sobre este tema, se ofrecen explicaciones sobre su uso correcto y sobre aquellos que deben evitarse para no incurrir en errores. Se tomaron opiniones de prestigiosos autores sobre el tema, tanto de Cuba como extranjeros, y se utilizaron algunos ejemplos de su uso correcto e incorrecto en artículos presentados para publicar en la revista Medicentro Electrónica(AU)

[Orofacial clinical manifestations in adult patients with variable common immunodeficiency]. / Manifestaciones clínicas orofaciales en pacientes adultos con inmunodeficiencia común variable.

BACKGROUND: Common variable immunodeficiency is the primary immunodeficiency (CVID) frequently found in adults. Its prevalence is estimated from 1:25,000 to 75,000 alive newborns; there are variations by ethnic groups, it is estimated about 50-70% in Caucasian patients. Oral cavity lesions are rarely found in adult patients with CVID, there are reports about lesions on pediatric patients mostly caused by infections. OBJECTIVE: To describe the orofacial lesions (oral, maxillofacial and neck area) affecting adults with CVID. MATERIAL AND METHOD: A transversal, prospective study was done in patients with CVID attended at Specialties Hospital, CMN SXXI, Mexico City. Patients where examined by the oral and maxillofacial surgeon and clinical findings were reported, then the descriptive analysis of the lesions was done. RESULTS: We evaluated 26 patients, 16 female and 10 males, average age of 38.6 years. In 18/26 patients we found oral lesions on 7 different types. The most frequent was minor salivary glands hiperplasia (19/26),petechiae (12/26) and herpetic ulcers (7/26). In head and neck, we found 4 different lesions, the most common was lymphadenopathy <2cm (4/26). CONCLUSIONS: The immunologic alterations associated to CVID favors the development of lesions mainly of infectious and probably autoinmune origin that affects the oral cavity and head and neck area.

Antecedentes: la inmunodeficiencia común variable es la inmunodeficienci primaria más común en adultos. Su prevalencia se estima en 1 por cada 25,000 a 75,000 recién nacidos vivos; existen variaciones por grupos étnicos, se estima en 50 a 70% en pacientes de raza caucásica. Las lesiones de la cavidad oral raramente se describen en pacientes adultos con inmunodeficiencia común variable, en niños con esta enfermedad existen informes de lesiones principalmente de origen infeccioso. Objetivo: describir las lesiones orofaciales (cavidad oral, macizo facial y cuello) en pacientes adultos con inmunodeficiencia común variable. Material y método: estudio transversal, prospectivo, efectuado en todos los adultos con inmunodeficiencia común variable adscritos a la Clínica de inmunodeficiencias primarias, del Hospital de Especialidades, Centro Médico Nacional Siglo XXI, que fueron examinados por un cirujano maxilofacial; se realizó el reporte de hallazgos en lista de cotejo y, posteriormente, el análisis descriptivo de las lesiones. Resultados: se incluyeron 26 pacientes, 16 mujeres y 10 hombres, con edad promedio de 38.6 años. En 18 de 26 pacientes estudiados se observaron lesiones orales, con siete lesiones diferentes y predominio en el sexo femenino 2:1. Las lesiones más frecuentes fueron: hiperplasia de glándulas salivales menores (19/26), petequias (12/26) y úlceras herpetiformes (7/26). En la cara y el cuello se observaron cuatro lesiones distintas, las adenopatías < 2 cm (4/26) fueron las más comunes. Conclusiones: las alteraciones inmunológicas asociadas con la inmunodeficiencia común variable favorecen la aparición de lesiones de origen infeccioso y probablemente autoinmunitario que afectan la cavidad oral, la cara y el cuello.

[Structural and functional heart diseases in adult patients with common variable immunodeficiency]. / Cardiopatías estructurales y funcionales en pacientes adultos con inmunodeficiencia común variable.

BACKGROUND: Common variable immunodeficiency (CVID) is the primary immunodeficiency with the largest number of comorbidities in adulthood. It has been associated with bronchiectasis between 17%-76%, and these with the presence of cardiovascular complications such as pulmonary hypertension and heart failure. The new image methods of diagnosis, to assess the cardiovascular structural and functional conformation of adult patients with bronchiectasis, help to establish more efficient and timely diagnoses. OBJECTIVE: To define the presence of structural and functional heart disease in CVID patients by transthoracic echocardiography. MATERIAL AND METHOD: A cross-sectional study was done in a cohort of 26 adult patients diagnosed with CVID and replacement therapy with intravenous immunoglobulin (IVIG), belonging to the Immunodeficiency Clinic. All patients underwent transthoracic echocardiography and tissue ECO doopler; the results were evaluated by a echocardiographer physician. RESULTS: We evaluated 26 patients, of whom 10 patients were male, with a mean age of 35.7 ± 13.7 years. The results of thoracic echocardiography of the left cardiac cavities found the following functional changes: 17 patients presented with mitral insufficiency and only 2 had aortic insufficiency, none symptoms. Regarding the structural alterations of the right cavities: 8 adults with CVID had right cavities growth and 5 of them, hypermobile atrial septum was reported; respect to functional alterations, 24 patients had tricuspid insufficiency; in 20 it was mild and only in 3 is was moderate. Up to 12 had pulmonary valve insufficiency, and 8 had pulmonary arterial hypertension (PAH); of which, in 2 it was mild and in one it was moderate; and 4 patients had PSAP in high limit values. CONCLUSIONS: Patients with CVID, despite having a high incidence of bronchiectasis, had low incidence of PAH, but a significant number of patients had PSAP in high cutoff level, so, these patients should be monitored annually, because probably they will evolve to PAH in the future. Also, they have a high incidence of mild valvular regurgitation due to mild degenerative changes with valvular sclerosis, therefore, they also require regular monitoring.

Antecedentes: la inmunodeficiencia común variable es la inmunodeficiencia primaria con mayor cantidad de comorbilidades en la vida adulta. Se ha asociado con bronquiectasias en 17 a 76%, y éstas, con complicaciones cardiovasculares, como hipertensión arterial pulmonar e insuficiencia cardiaca. Los nuevos métodos diagnósticos de imagen permiten evaluar la conformación estructural y funcional cardiovascular de los pacientes adultos con bronquiectasias y, de esta manera, establecer diagnósticos más eficientes y oportunos. Objetivo: determinar las cardiopatías estructurales y funcionales en pacientes con inmunodeficiencia común variable mediante ecocardiografía transtorácica. Material y método: estudio transversal, descriptivo, efectuado en una cohorte de 26 pacientes adultos con diagnóstico de inmunodeficiencia común variable y tratamiento sustitutivo con inmunoglobulina intravenosa (IgIV), pertenecientes a la Clínica de Inmunodeficiencias. A todos los pacientes se les realizó ecocardiografía transtorácica con ecocardiograma doppler y tisular; los resultados fueron evaluados por un médico cardiólogo ecocardiografista. Resultados: evaluamos a 26 pacientes; de ellos, 10 fueron del género masculino, con media de edad de 35.7 ± 13.7 años. Los resultados de la ecocargiografia torácica en las cavidades cardiacas izquierdas reportaron las siguientes alteraciones funcionales: 17 de 26 pacientes tuvieron insuficiencia mitral y sólo 2 tuvieron insuficiencia aórtica; ninguno de ellos con síntomas. Respecto de las alteraciones estructurales de las cavidades derechas: 8 pacientes adultos con inmunodeficiencia común variable tuvieron crecimiento de las cavidades derechas y en 5 pacientes se encontró tabique interauricular delgado e hipermóvil; respecto de las alteraciones funcionales, 24 pacientes tuvieron insuficiencia tricuspídea, en 21 de ellos fue leve y sólo en 3 fue moderada. Además, 12 pacientes tuvieron insuficiencia de la válvula pulmonar y 6 pacientes tuvieron hipertensión arterial pulmonar; de ellos, en 2 sujetos fue leve y en 2, moderada y 4 pacientes tuvieron presión sistólica de la arteria pulmonar con valores límites altos. Conclusiones: los pacientes con inmunodeficiencia común variable, a pesar de tener alta incidencia de bronquiectasias, tienen baja incidencia de hipertensión arterial pulmonar; pero un número importante de pacientes tiene presión sistólica de la arteria pulmonar con valor límite alto, por lo que estos pacientes deben tener un seguimiento anual, debido a que probablemente evolucionarán a hipertensión arterial pulmonar. Además, tienen alta incidencia de insuficiencias valvulares leves debido a cambios degenerativos con esclerosis valvular, por lo que también requieren vigilancia periódica.