Presentación atípica de histoplasmosis diseminada / Atypical presentation of disseminated histoplasmosis

La histoplasmosis es una micosis sistémica producida por una variedad de hongo dimorfo perteneciente al complejo Histoplasma capsulatum. Es una enfermedad prevalente en nuestro medio y sobre todo en pacientes viviendo con HIV con recuento de <200 linfocitos CD4/ml y con cargas virales mayores a 100.000 copias/ml. La presentación de la forma diseminada raramente suele afectar al aparato reproductor; siendo la forma más frecuente pulmonar

Local effect of allopregnanolone in rat ovarian steroidogenesis, follicular and corpora lutea development.

Allopregnanolone (ALLO) is a known neurosteroid and a progesterone metabolite synthesized in the ovary, CNS, PNS, adrenals and placenta. Its role in the neuroendocrine control of ovarian physiology has been studied, but its in situ ovarian effects are still largely unknown. The aims of this work were to characterize the effects of intrabursal ALLO administration on different ovarian parameters, and the probable mechanism of action. ALLO administration increased serum progesterone concentration and ovarian 3ß-HSD2 while decreasing 20α-HSD mRNA expression. ALLO increased the number of atretic follicles and the number of positive TUNEL granulosa and theca cells, while decreasing positive PCNA immunostaining. On the other hand, there was an increase in corpora lutea diameter and PCNA immunostaining, whereas the count of TUNEL-positive luteal cells decreased. Ovarian angiogenesis and the immunohistochemical expression of GABAA receptor increased after ALLO treatment. To evaluate if the ovarian GABAA receptor was involved in these effects, we conducted a functional experiment with a specific antagonist, bicuculline. The administration of bicuculline restored the number of atretic follicles and the diameter of corpora lutea to normal values. These results show the actions of ALLO on the ovarian physiology of the female rat during the follicular phase, some of them through the GABAA receptor. Intrabursal ALLO administration alters several processes of the ovarian morpho-physiology of the female rat, related to fertility and oocyte quality.

Frecuencia de eventos cardiovasculares en pacientes con lupus eritematoso sistémico / Frequency of cardiovascular events in patients with systemic lupus erythematosus

Resumen Introducción: el progreso en los tratamientos para el lupus eritematoso sistémico (LES) resultó en una disminución de la mortalidad; sin embargo, la enfermedad cardiovascular y las complicaciones infecciosas aún son las principales causas de muerte. La evidencia apoya la participación del sistema inmunológico en la generación de la placa aterosclerótica, así como su conexión con las enfermedades autoinmunes. Objetivos: describir la frecuencia de eventos cardiovasculares (ECV) en el Registro de Lupus Eritematoso Sistémico de la Sociedad Argentina de Reumatología (RELESSAR) transversal, así como sus principales factores de riesgo asociados. Materiales y métodos: estudio descriptivo y transversal para el cual se tomaron los pacientes ingresados en el registro RELESSAR transversal. Se describieron las variables sociodemográficas y clínicas, las comorbilidades, score de actividad y daño. ECV se definió como la presencia de al menos una de las siguientes patologías: enfermedad arterial periférica, cardiopatía isquémica o accidente cerebrovascular. El evento clasificado para el análisis fue aquel posterior al diagnóstico del LES. Se conformaron dos grupos macheados por edad y sexo 1:2. Resultados: 1515 pacientes mayores de 18 años participaron del registro. Se describieron 80 pacientes con ECV (5,3%). En este análisis se incluyeron 240 pacientes conformando dos grupos. La edad media fue de 47,8 (14,4) y 47,6 (14,2) en el grupo con y sin ECV respectivamente. Los pacientes con ECV tuvieron mayor duración del LES en meses, mayor índice de Charlson, mayor SLICC (Systemic Lupus International Collaborating Clinics/American College of Rheumatology), mayor frecuencia de manifestaciones neurológicas, síndrome antifosfolípido, hospitalizaciones y uso de ciclofosfamida. Las únicas variables asociadas en el análisis multivariado fueron el índice de Charlson (p=0,004) y el SLICC (p<0,001). Conclusiones: los ECV influyen significativamente en nuestros pacientes, y se asocian a mayor posibilidad de daño irreversible y comorbilidades.

Abstract Introduction: progress in treatments for systemic lupus erythematosus (SLE) has resulted in a decrease in mortality; however, cardiovascular and infectious diseases remain the leading causes of death. Evidence supports the involvement of the immune system in the generation of atherosclerotic plaque, as well as its connection to autoimmune diseases. Objectives: to describe the frequency of cardiovascular disease (CVD) in the cross-sectional RELESSAR registry, as well as its associated variables. Materials and methods: a descriptive and cross-sectional study was performed using patients admitted to the cross-sectional RELESSAR registry. Sociodemographic variables, clinical variables, comorbidities, activity and damage scores were described. CVD was defined as at least one of the following: peripheral arterial disease, ischemic heart disease, or cerebrovascular accident. All patients with at least one CVD were included in our analysis (heart attack, central nervous system vascular disease, and peripheral arteries atherosclerotic disease). The event classified for the analysis was that after the diagnosis of SLE. SLE diagnosis was previous to CVD. Two groups matched by age and sex, 1:2 were formed. Results: a total of 1515 patients older than 18 years participated in the registry. Eighty patients with CVD (5.3%) were described in the registry. Two-hundred and forty patients were included, according to two groups. The mean age was 47.8 (SD 14.4) and 47.6 (SD 14.2) in patients with and without CVD, respectively. Patients with CVD had a longer duration of SLE in months, a higher Charlson index, a higher SLICC, increased frequency of neurological manifestations, antiphospholipid syndrome, hospitalizations, and use of cyclophosphamide. The associated variables in the multivariate were the Charlson Index (p=0.004) and the SLICC (p<0.001). Conclusions: CVDs have a significant influence on our patients, being associated with a greater possibility of damage and comorbidities.

Effect of peripheral neural stimulation with allopregnanolone on ovarian physiology.

Neuroactive steroids can rapidly regulate multiple physiological functions in the central and peripheral nervous systems. The aims of the present study were to determine whether allopregnanolone (ALLO), administered in low nanomolar and high micromolar concentrations, can: (i) induce changes in the ovarian progesterone (P4) and estradiol (E2) release; (ii) modify the ovarian mRNA expression of Hsd3b1 (3ß-hydroxysteroid dehydrogenase, 3ß-HSD)3ß-, Akr1c3 (20α-hydroxysteroid dehydrogenase, 20α-HSD), and Akr1c14 (3α-hydroxy steroid oxidoreductase, 3α-HSOR)); and (iii) modulate the ovarian expression of progesterone receptors A and B, α and ß estrogenic receptors, luteinizing hormone receptor (LHR) and follicle-stimulating hormone receptor (FSHR). To further characterize ALLO peripheral actions, the effects were evaluated using a superior mesenteric ganglion-ovarian nervous plexus-ovary (SMG-ONP-O) and a denervated ovary (DO) systems. ALLO SMG administration increased P4 concentration in the incubation liquid by decreasing ovarian 20α-HSD mRNA, and it also increased ovarian 3α-HSOR mRNA expression. In addition, ALLO neural peripheral modulation induced an increase in the expression of ovarian LHR, PRA, PRB, and ERα. Direct ALLO administration to the DO decreased E2 and increased P4 concentration in the incubation liquid. The mRNA expression of 3ß-HSD decreased and 20α-HSD increased. Further, ALLO in the OD significantly changed ovarian FSHR and PRA expression. This is the first evidence of ALLO's direct effect on ovarian steroidogenesis. Our results provide important insights about how this neuroactive steroid interacts both with the PNS and the ovary, and these findings might help devise some of the pleiotropic effects of neuroactive steroids on female reproduction. Moreover, ALLO modulation of ovarian physiology might help uncover novel treatment approaches for reproductive diseases.

[Primary pulmonary rabdomyosarcoma: clinical-pathological and immunohistochemical findings]. / Rabdomiosarcoma pulmonar primario: hallazgos clínico-patológicos e inmunohistoquímicos.

Pulmonary rhabdomyosarcona is a rare entity and the histopatological differential diagnosis can be difficult. We report on a case of a 48-year-old male patient with a neoplasm located at the hilum of the right lung. The histological study of the lobectomy specimen allowed the diagnosis of embryonal rhabdomyosarcoma to be made. Given the absence of tumor lesions in other sites, it was classified as primary pulmonary neoplasm. The patient underwent chemotherapy and subsequently a completion pneumonectomy for recurrence of the tumor. One year after the initial surgery, he presented a metastasis in the right adrenal gland. He died 20 months after the original diagnosis. The importance of immunohistochemistry in the diagnosis is emphasized and the different theories that attempt to explain the histogénesis of these tumors in unusual sites are analyzed.

El rabdomiosarcoma pulmonar es una entidad rara y muy poco frecuente, más aún en la población adulta, lo que puede dificultar el diagnóstico correcto. Se presenta el caso de un varón de 48 años con un tumor pulmonar. El estudio histológico reveló que se trataba de un rabdomiosaroma embrionario pulmonar primario. Dada la ausencia de lesiones tumorales en otros sitios fue catalogado como primario pulmonar. El paciente realizó quimioterapia y posteriormente fue sometido a una neumonectomía por recidiva de la neoplasia. Al año de la cirugía inicial presentó una metástasis en glándula suprarrenal derecha. Falleció al cabo de 20 meses del diagnóstico original. Se enfatiza la importancia de la inmunohistoquímica en el diagnóstico y se analizan las distintas teorías vigentes que intentan explicar la histogénesis de estos tumores en sitios no habituales.

Rabdomiosarcoma pulmonar primario: hallazgos clínico-patológicos e inmunohistoquímicos / Primary pulmonary rabdomyosarcoma: clinical-pathological and immunohistochemical findings

Resumen El rabdomiosarcoma pulmonar es una entidad rara y muy poco frecuente, más aún en la población adulta, lo que puede dificultar el diagnóstico correcto. Se presenta el caso de un varón de 48 años con un tumor pulmonar. El estudio histológico reveló que se trataba de un rabdomiosaroma embrionario pulmonar primario. Dada la ausencia de lesiones tumorales en otros sitios fue catalogado como primario pulmonar. El pa ciente realizó quimioterapia y posteriormente fue sometido a una neumonectomía por recidiva de la neoplasia. Al año de la cirugía inicial presentó una metástasis en glándula suprarrenal derecha. Falleció al cabo de 20 meses del diagnóstico original. Se enfatiza la importancia de la inmunohistoquímica en el diagnóstico y se analizan las distintas teorías vigentes que intentan explicar la histogénesis de estos tumores en sitios no habituales.

Abstract Pulmonary rhabdomyosarcona is a rare entity and the histopatological differential diagnosis can be difficult. We report on a case of a 48-year-old male patient with a neoplasm located at the hilum of the right lung. The histological study of the lobectomy specimen allowed the diagnosis of embryonal rhabdomyosarcoma to be made. Given the absence of tumor lesions in other sites, it was classified as primary pulmonary neoplasm. The patient underwent chemotherapy and subsequently a completion pneumonectomy for recurrence of the tumor. One year after the initial surgery, he presented a metastasis in the right adrenal gland. He died 20 months after the original diagnosis. The importance of immunohistochemistry in the diagnosis is emphasized and the different theories that attempt to explain the histogénesis of these tumors in unusual sites are analyzed.

Multicenter lupus register from Argentina, the RELESSAR database: Influence of ethnicity on disease phenotype.

OBJECTIVE: The objective is to describe the main characteristics of patients with systemic lupus erythematosus (SLE) in Argentina and to examine the influence of ethnicity on the expression of the disease. PATIENTS AND METHODS: RELESSAR is a multicentre register carried out by 106 researchers from 67 rheumatologic Argentine centres. It is a cross-sectional study of SLE (1982/1997 ACR) patients. RELESSAR electronic database includes demographic, cumulative SLE manifestations, SELENA-SLEDAI, SLICC-SDI, Katz's severity and Charlson's comorbidity indexes and treatment patterns. RESULTS: We included 1,610 patients, 91.7% were female with a median age at diagnosis of 28.1 ± 12.8; 96.2% met ≥4 ACR 1982/97 criteria. Frequent manifestations were arthritis (83.5%), malar rash (79.5%), photosensitivity (75.3%), haematological (63.8%) and renal disease (47.4%), antinuclear antibodies (96%), anti-dsDNA (66.5%) and anti-Smith antibodies (29%). The mean Selena-SLEDAI score at last visit was 3.18 (SD 4.3) and mean SDI was 1 (SD 1.3). The accumulated treatments most frequently used were antimalarials (90.4%), corticosteroids (90%), azathioprine (31.8%), intravenous cyclophosphamide (30.2%), mycophenolate mofetil or mycophenolic acid (24.5%), methotrexate (19.3%), belimumab 5.3% and rituximab 5.1%. Refractory lupus was diagnosed in 9.3% of the cases. The main causes of death were lupus activity (25.0%), activity and concomitant infections (25.0%), infections (18.2%), vascular disease (13.6%) and cancer (4.5%). Mortality was associated with higher SLEDAI, Katz, damage indexes and comorbidities. Of the 1610 patients included, 44.6% were Caucasian, 44.5% Mestizo, 8.1% Amerindian and 1.2% Afro-Latin American. Mestizo patients had higher male representation, low socioeconomic status, more inadequate medical coverage, fewer formal years of education and shorter disease duration. Polyadenopathies and Raynaud's phenomenon were more frequent in Caucasians. In the logistic regression analysis higher damage index (OR 1.28, CI 95% 1.02-1.61, p = 0.03) remained associated to mestizo ethnicity. CONCLUSIONS: This study represents the largest number of adult patients with SLE studied in Argentina. Caucasian patients were differentiated by having Raynaud's phenomenon and polyadenopathy more frequently, while patients of Mestizo origin had higher damage indexes.

Lupus en Argentina. Pacientes no respondedores al tratamiento estándar y belimumab como posible opción. Datos del registro RELESSAR / Lupus in Argentina. Non-responders to standard treatment and belimumab as a possible option. RELESSAR record data

Introducción: el lupus es una enfermedad compleja y varias veces de difícil abordaje. Alcanzar la remisión es uno de los objetivos, incorporando opciones terapéuticas. Objetivos: describir las características generales de los pacientes según el estado de la enfermedad y el uso de belimumab. Materiales y métodos: estudio de corte transversal, registro RELESSAR. Se definió el estado de la enfermedad como: remisión: SLEDAI=0 y sin corticoides; baja actividad de la enfermedad: SLEDAI >0 y ≤4 y sin corticoides; control no óptimo: SLEDAI >4 y cualquier dosis de corticoides. Resultados: se incluyeron 1.277 pacientes, 23,4% en remisión, 12,6% en baja actividad y 63,8% con control no óptimo. En este último grupo eran más jóvenes y con menor duración de la enfermedad; presentaban mayores índices de actividad y cronicidad, y mayor empleo de inmunosupresores. Solo el 22,3% de los pacientes con criterio potencial de uso de belimumab (lupus eritematoso sistémico activo a pesar del tratamiento estándar) lo recibía en ese momento. Las variables asociadas a hospitalizaciones fueron: terapia con corticoides, ciclofosfamida y mayor SLICC. Conclusiones: se refleja la complejidad del manejo de estos pacientes y se visualizan aspectos estructurales como la desigualdad. El uso del belimumab resultaría beneficioso en los pacientes seleccionados.

Introduction: lupus is a complex disease and often difficult to approach. Achieving remission is one of the objectives, incorporating therapeutic options. Objectives: to describe the characteristics of the patients and the use of belimumab, according to the status of the disease. Materials and methods: cross-sectional study. Patients of the RELESSAR registry. Stratification: Remission: SLEDAI=0 and without corticosteroids. Low disease activity SLEDAI> 0 and ≤4 and without corticosteroids and non-optimal control: SLEDAI> 4 and any dose of corticosteroids. Results: a total of 1,277 patients were included, 23.4% in remission, 12.6% in low disease activity and 63.8% in non-optimal control. The last group was younger and had a shorter duration of the disease. They had higher activity and chronicity indices and greater use of immunosuppressants. Only 22.3% of the patients with potential criteria for the use of belimumab (activity disease despite standard treatment) were receiving it. The variables associated with hospitalizations were: corticosteroids, cyclophosphamide and higher SLICC. Those associated with severe infection: mycophenolate mofetil, azathioprine, corticosteroids, and higher SLICC. Conclusions: the complexity of the management of these patients is reflected, visualizing structural aspects such as inequality. The use of belimumab could be beneficial in selected patients.

Lupus en Argentina. Pacientes no respondedores al tratamiento estándar y belimumab como posible opción. Datos del registro RELESSAR / Lupus in Argentina. Non-responders to standard treatment and belimumab as a possible option. RELESSAR record data

Introducción: el lupus es una enfermedad compleja y varias veces de difícil abordaje. Alcanzar la remisión es uno de los objetivos, incorporando opciones terapéuticas. Objetivos: describir las características generales de los pacientes según el estado de la enfermedad y el uso de belimumab. Materiales y métodos: estudio de corte transversal, registro RELESSAR. Se definió el estado de la enfermedad como: remisión: SLEDAI=0 y sin corticoides; baja actividad de la enfermedad: SLEDAI >0 y ≤4 y sin corticoides; control no óptimo: SLEDAI >4 y cualquier dosis de corticoides. Resultados: se incluyeron 1.277 pacientes, 23,4% en remisión, 12,6% en baja actividad y 63,8% con control no óptimo. En este último grupo eran más jóvenes y con menor duración de la enfermedad; presentaban mayores índices de actividad y cronicidad, y mayor empleo de inmunosupresores. Solo el 22,3% de los pacientes con criterio potencial de uso de belimumab (lupus eritematoso sistémico activo a pesar del tratamiento estándar) lo recibía en ese momento. Las variables asociadas a hospitalizaciones fueron: terapia con corticoides, ciclofosfamida y mayor SLICC. Conclusiones: se refleja la complejidad del manejo de estos pacientes y se visualizan aspectos estructurales como la desigualdad. El uso del belimumab resultaría beneficioso en los pacientes seleccionados.

Introduction: lupus is a complex disease and often difficult to approach. Achieving remission is one of the objectives, incorporating therapeutic options. Objectives: to describe the characteristics of the patients and the use of belimumab, according to the status of the disease. Materials and methods: cross-sectional study. Patients of the RELESSAR registry. Stratification: Remission: SLEDAI=0 and without corticosteroids. Low disease activity SLEDAI> 0 and ≤4 and without corticosteroids and non-optimal control: SLEDAI> 4 and any dose of corticosteroids. Results: a total of 1,277 patients were included, 23.4% in remission, 12.6% in low disease activity and 63.8% in non-optimal control. The last group was younger and had a shorter duration of the disease. They had higher activity and chronicity indices and greater use of immunosuppressants. Only 22.3% of the patients with potential criteria for the use of belimumab (activity disease despite standard treatment) were receiving it. The variables associated with hospitalizations were: corticosteroids, cyclophosphamide and higher SLICC. Those associated with severe infection: mycophenolate mofetil, azathioprine, corticosteroids, and higher SLICC. Conclusions: the complexity of the management of these patients is reflected, visualizing structural aspects such as inequality. The use of belimumab could be beneficial in selected patients.

Variations in the adenohypophysis of the expression of proliferating cellular nuclear antigen, oestrogen and androgen receptors in relation to gonadal steroids during pregnancy of viscachas (Lagostomus maximus maximus).

Viscachas are native rodents of South America that present a long pregnancy of ~154 days. In this work, we analysed variations in the expression of proliferating cellular nuclear antigen, oestrogen and androgen receptors (ERα and AR) in pituitary pars distalis (PD) and pars tuberalis (PT) in relation to oestradiol and testosterone serum levels in non-pregnant and pregnant viscachas. In PD, cell proliferation increased with pregnancy and lactotrophs proliferated during mid-pregnancy (MP). ERα nuclear-immunoreactive cells (ERαn-ir) were maximal in late pregnancy and AR expression did not vary during pregnancy. In PT, cell proliferation and AR expression increased during pregnancy, but ERα expression was very scarce. The immunostaining pattern of receptors was different in PD and PT. The peak of serum oestradiol and testosterone occurred during MP. Our results suggest that cell proliferation and gonadal receptors might be differentially regulated in the pituitary by oestradiol and testosterone during viscacha pregnancy.

Interstitial Cells in the Pineal Gland of Pregnant and Nonpregnant Viscachas (Lagostomus maximus maximus): A Morphometric and Biochemical Study.

The pineal gland of mammals undergoes morphological and biochemical changes throughout the gestation period. In viscachas, a seasonal breeding rodent, pregnancy lasts approximately 154 days and 3 stages can be defined, i.e., early, mid, and late pregnancy. The purpose of this study is to analyze morphometric variations in the expression of S-100 protein, glial fibrillary acidic protein (GFAP), and vimentin in the interstitial cells (IC) in pregnant and nonpregnant viscachas by immunohistochemistry (IHC). We also aim to evaluate a probable relation between glandular activity and pregnancy. The immunopositive percentage area (%IA) for the studied proteins and the number of immunoreactive cells against the S-100 protein with a visible nucleus (nº IC-S-100) were analyzed. Estradiol and progesterone serum levels were also determined by RIA. Variations in the expression of the S-100 protein and GFAP, as well as changes in the nº IC-S-100 related to serum hormone levels, were found between pregnant and nonpregnant viscachas. Viscachas in mid pregnancy exhibited the highest values of %IA for the analyzed proteins, followed by females in late and early pregnancy, while the nonpregnant ones showed the lowest values for all of the groups studied. Likewise, the nº IC-S-100 also varied following the same pattern. Thus, these variations seem to indicate a direct relationship between glandular activity and gonadal hormone levels. On these grounds, we may conclude that IC undergo changes in relation to ovarian hormone levels and participate in the regulation of glandular activity during pregnancy. However, further research is necessary to elucidate this relationship.

Dengue virus infection induces chromatin remodeling at locus AAEL006536 in the midgut of Aedes aegypti / La infección por virus dengue induce remodelación de la cromatina en el locus AAEL006536 en el intestino medio de Aedes aegypti

Abstract: Objective: To identify and characterize Aedes aegypti's AAEL006536 gene proximal upstream cis-regulatory sequences activated by dengue virus infection. Materials and methods: A. aegypti Rockefeller strain mosquitoes were blood fed or infected with dengue virus 2. Open chromatin profiling was then carried out in pools of midguts from each group of mosquitoes. Results: The proximal upstream region does not contain open chromatin sites in the midguts of blood-fed mosquitoes as detected by FAIRE-qPCR. In contrast, two cis-regulatory sites were identified in the same upstream region of dengue virus-infected mosquito midguts. The distal sequence contains STAT-, REL- and C/EBP-type transcription factor binding sites. Conclusion: The activation of two proximal cis-regulatory sequences, induced by dengue virus infection, is mediated by chromatin remodeling mechanisms. Binding sites suggest a dengue virus infection-induced participation of immunity transcription factors in the up-regulation of this gene. This suggests the participation of the AAEL006536 gene in the mosquito's antiviral innate immune response.

Resumen: Objetivo: Identificar y caracterizar las secuencias reguladoras activadas por la infección por virus dengue en la región proximal del gen AAEL006536 de Aedes aegypti. Material y métodos: Mosquitos de la cepa Rockefeller de A. aegypti se infectaron con virus dengue o se alimentaron con sangre. Se obtuvieron los perfiles de cromatina abierta del locus en los intestinos de cada uno de los grupos. Resultados: Se identificaron dos sitios reguladores solo en los intestinos de mosquitos infectados por virus dengue. El sitio distal contiene sitios de unión a factores de transcripción tipo REL, STAT y C/EBP. Conclusiones: La activación de dos sitios reguladores proximales está mediada por la remodelación de la cromatina. Los sitios de unión a factores de transcripción en el sitio regulador distal sugieren la participación de las vías de inmunidad en la regulación del gen. Esto sugiere la participación de este gen en la respuesta inmune del mosquito frente a la infección viral.

Síndrome de Goltz / Goltz's syndrome

El síndrome de Goltz, o hipoplasia dérmica focal, es un desorden multisistémico raro que involucra la piel, el sistema músculo-esquelético, los ojos, el pelo, las uñas y el riñón, entre otros, con considerable variación en los rasgos clínicos. El examen oftalmológico del caso que se presenta corresponde a una niña con microftalmia en el ojo izquierdo, obstrucción del conducto nasolagrimal en el ojo derecho y coloboma de iris y del nervio óptico del ojo microftálmico, además de esotropia sensorial. El diagnóstico fue confirmado por genética como una hipoplasia dérmica focal que, a pesar de ser poco común, debemos conocerlo para poderlo identificar si se presentara en nuestra consulta(AU)

Goltz syndrome or focal dermal hypoplasia is a rare multisystemic disorder involving the skin, the musculoskeletal system, the eyes, the hair, the nails and the kidney among others, with considerable variation in clinical features. The ophthalmological examination of the case presented in this paper shows a girl who has microphthalmia in the left eye, nasolacrimal duct obstruction in the right eye and coloboma of the iris and optic nerve in the microphthalmic eye in addition to sensory esotropia. The diagnosis was confirmed by genetic studies and it was focal dermal hypoplasia, which is a rare disease but we should learn about it to be able to identify it if some patient with the disease goes to our service(AU)

Detección de bocavirus humano en la población infantil de Tucumán y Santa Fe, Argentina / Detection of human bocavirus in children from Tucuman and Santa Fe, Argentina

Background: A large proportion of acute respiratory tract infections (ARTI) remain without etiologic diagnosis, reason why new pathogens are investigated continuously. Human bocavirus (HBoV) was discovered in 2005, as a new member of Parvoviridae family and proposed to cause ARTI. Aim: To know the prevalence of HBoV among pediatric populations hospitalized for ARTI in two provinces of Argentina: Santa Fe and Tucuman; and to describe epidemiological and clinical aspects associated to its detection. Materials and Methods: We studied nasopharyn-geal aspirates of patients younger than 5 years old that were hospitalized during 2013 due ARTI. HBoV DNA was assayed using PCR described by Allander et al. Traditional virnses were studied by immunofluorescence. Personal, clinical and epidemiological data were collected in a standardized form. Results: The HBoV was detected in 7% of the samples and was prevalent in spring and summer and in children younger of 2 years old. Other respiratory viruses were detected in 22% of HBoV positive samples. Discussion: We detected HBoV in these two provinces of Argentina. Further studies should be performed to determine if it’s a recent infection or prolonged viral shedding.

Introducción: Un alto porcentaje de las infecciones respiratorias agudas (IRA) permanece sin diagnostico etiológico, por lo cual se investigan nuevos patógenos continuamente. Bocavirus humano (HBoV) fue descubierto en 2005, como un nuevo miembro de la familia Parvoviridae y propuesto como causante de IRA. Objetivos: Investigar la prevalencia de HBoV en niños bajo 5 años de edad, hospitalizados por IRA en dos provincias de Argentina: Santa Fe y Tucumán y describir aspectos epidemiológicos y clínicos asociados a su detección. Materiales y Métodos: Se estudiaron retrospectivamente los aspirados nasofaríngeos (ANF) de pacientes bajo 5 años de edad, con diagnóstico de IRA, hospitalizados durante el año 2013. La presencia de HBoV se detectó mediante la RPC de punto final descripta por Allander y cols. Los virus tradicionales se estudiaron mediante inmunofluorescencia. Datos personales, clínicos y epidemiológicos se recolectaron en una planilla estandarizada. Resultados: HBoV fue detectado en 7% de las muestras con prevalencia en primavera y verano; y principalmente en pacientes bajo 2 años de edad. Se registró co-detecciones en 22% de los casos. Discusión: Hemos detectado HBoV en estas dos provincias de Argentina; estudios posteriores deberán efectuarse para determinar si se trata de una infección reciente o una excreción prolongada del virus.

Marcadores tempranos de patologías de la articulación temporomandibular en pacientes con artritis reumatoidea / Early markers of temporomandibular joint pathology in patients with rheumatoid arthritis

Evaluar, en pacientes con artritis reumatoidea, los síntomas y signos clínicos de la ATM desde el punto de vista odontológico y reumatológico, interrelacionando los hallazgos realizados con reactantes de fase aguda -como eritrosedimentación- y con marcadores de la enfermedad -como el Health Assessment Questionaire (HAQ) y el Score Disease Activity. Determinar cuáles son los predictores más importantes de la enfermedad, a fin de facilitar el diagnóstico y el manejo temprano de patologías de la ATM en la artritis reumatoidea (DAS28). Materiales y métodos: se evaluaron 190 articulaciones de pacientes con artritis reumatoidea -considerando dos por paciente- y 22 controles. La evaluación de la ATM fue realizada mediante inspección clínica, cuestionarios y radiografías. La artritis reumatoidea fue testeada clínica, serológica y radiográficamente. Para evaluar las ATMs, se utilizó el score de Rohlin y Petersson y, para las manos, el de Larsen. Para la diferencia de porcentajes (p) se empleó la prueba de las diferencias proporcionales y la asociación se determinó con el coeficiente de correlación de Pearson (r). Resultados: se hallaron anormalidades radiográficas en 167 (87,89 por ciento) de las 190 ATM evaluadas. El 57,37 por ciento de los pacientes con artritis reumatoidea referían dolor en la ATM. El 58,95 por ciento presentaba menos de 20 piezas dentarias. El 70,53 por ciento tenía la apertura bucal máxima disminuida. Existió una asociación altamente significativa (A/S=0,000) entre las cefaleas de los pacientes con artritis reumatoidea y el grupo control; una asociación no significativa (N/S) entre los resultados del DAS28, el HAQ y la ERS (eritrosedimentación) con las erosiones de la ATM; y A/S=0,62 entre las erosiones de la mano y las de la ATM. Conclusión: se determinó que existe una alta prevalencia de problemas articulares en los pacientes con AR. Las erosiones en la mano se correlacionan con las de la ATM. Por todo esto, se sugiere la evaluación...

Frecuencia de anticuerpos para diagnóstico de enfermedad celíaca en pacientes con enfermedades del tejido conectivo y artropatías inflamatorias / Serum anti endomysial and anti transglutaminase antibodies in patients with connective tissue diseases

Background: The detection of anti-transglutaminase IgA (tTG) and anti-endomysial (EMA) is used for screening of celiac disease (CD) with a sensitivity and specificity of 90 and 99% respectively. There is an association between CD and connective tissue diseases (CTD). Aim: To report the frequency of IgA tTG and EMA in patients with a definite diagnosis of CTD and inflammatory arthropathies (IA). Material and Methods: One hundred forty nine patients, aged 19 to 86 years (133 females) with CTD and IA were studied. tTG were determined by ELISA and EMA by indirect immunofluorescence. Results: Eight participants had at least one positive antibody (5.4%, confidence intervals (CI) = 1.8-9), six had both (4.0% CI = 0.9-7.2) and two had only tTG positive. An intestinal biopsy was performed in four of these participants, finding a marked villous atrophy in three and partial atrophy in one. Conclusions: Five percent of this group of patients with CTD or IA had positive antibodies for CD.

[Serum anti endomysial and anti transglutaminase antibodies in patients with connective tissue diseases]. / Frecuencia de anticuerpos para diagnóstico de enfermedad celíaca en pacientes con enfermedades del tejido conectivo y artropatías inflamatorias.

BACKGROUND: The detection of anti-transglutaminase IgA (tTG) and anti-endomysial (EMA) is used for screening of celiac disease (CD) with a sensitivity and specificity of 90 and 99% respectively. There is an association between CD and connective tissue diseases (CTD). AIM: To report the frequency of IgA tTG and EMA in patients with a definite diagnosis of CTD and inflammatory arthropathies (IA). MATERIAL AND METHODS: One hundred forty nine patients, aged 19 to 86 years (133 females) with CTD and IA were studied. tTG were determined by ELISA and EMA by indirect immunofluorescence. RESULTS: Eight participants had at least one positive antibody (5.4%, confidence intervals (CI) = 1.8-9), six had both (4.0% CI = 0.9-7.2) and two had only tTG positive. An intestinal biopsy was performed in four of these participants, finding a marked villous atrophy in three and partial atrophy in one. CONCLUSIONS: Five percent of this group of patients with CTD or IA had positive antibodies for CD.

Análisis de las características sociodemográficas de los pacientes con enfermedad renal crónica terminal: diferencias en un periodo de seis años / Analysis of socio-demographic features of patients with end stage chronic renal disease: differences in a six year period

Introducción. Actualmente, la enfermedad renal crónica es un padecimiento con un gran impacto en la población infantil mexicana, con consecuencias limitantes y graves a corto plazo. La pobreza y la falta de justicia social del entorno influyen en la atención oportuna y rehabilitación a largo plazo. El objetivo de este estudio fue documentar las diferencias relacionadas con las características sociodemográficas de los pacientes que recibieron tratamiento en el Hospital Infantil de México Federico Gómez en un periodo de seis años. Métodos. Se realizó un estudio comparativo retrospectivo de los pacientes con enfermedad renal crónica terminal que fueron diagnosticados en 2003 y en 2009. La información fue proporcionada por el Departamento de Archivo Clínico y Bioestadística. Se registraron los datos de edad, sexo, etiología de la enfermedad renal, nivel socioeconómico, tipo de financiamiento, lugar de origen e ingreso a un programa de rehabilitación (diálisis o trasplante). Resultados. En el 2003 se recibieron 69 pacientes con enfermedad renal crónica terminal, mientras que en el 2009 se recibieron 50 pacientes. No hubo diferencias de edad ni de sexo. Pudo conocerse la etiología de la uremia en 40% de los niños diagnosticados en 2003 y en 54% de los diagnosticados en 2009. La mayoría de los pacientes provinieron de los niveles socioeconómicos más bajos. Hubo una tendencia a la disminución en el número de pacientes de otros estados del país, siendo 30% en 2003 y 16% en 2009. Pudieron ingresar a programa de rehabilitación 23 pacientes en 2003 (33%) y 29 pacientes en 2009 (58%), p = 0.007. Conclusiones. Hubo una disminución de 28% en el número de casos atendidos, del 2003 al 2009. La atención se ha concentrado en pacientes provenientes del Estado de México y el Distrito Federal. A pesar de que, aparentemente, el nivel socioeconómico es similar en ambos grupos, la proporción de niños que ingresaron al programa de rehabilitación a largo plazo aumentó en forma significativa, de 33% en 2003 a 58% en 2009.

Background. Chronic renal disease (CRD) is a disease with a strong impact on the childhood Mexican population with short-range limiting and serious consequences. Poverty and a social environment devoid of social justice hinder timely medical attention and long-range rehabilitation. The aim of this study was to determine the differences regarding sociodemographic features in patients under treatment at Hospital Infantil de México Federico Gómez, with a 6-year difference: patients diagnosed in 2003 as compared to those diagnosed in 2009. Methods. A retrospective comparative study was carried out with end-stage chronic renal disease (ESRD) patients with information obtained from the clinical files. Data were obtained on age, gender, renal insufficiency etiology, socioeconomic level, type of financing, place of origin, and whether patient entered a rehabilitation program (dialysis or transplant). Results. In 2003, 69 patients with ESRD were received, whereas 50 patients were received in 2009. There were no differences in age or gender between dates. Etiology of uremia was determined in 40% of the children in 2003 and 50% in 2009. Most patients in the assessed years belong to the lowest socioeconomic levels, coming from the State of Mexico and metropolitan Mexico City. There was a decreasing trend in the number of patients coming from other states of the country: 30% in 2003 and 16% in 2009. Twenty-three patients (33%) entered the rehabilitation program in 2003 and 29 patients (58%) in 2009 (p = 0.007). Conclusions. There was a 28% decrease between 2003 and 2009 in the number of cases being managed. Attention has been focused on the State of Mexico and metropolitan Mexico City area. In spite of socioeconomic level being apparently similar in the studied years, there was a significant increase in the proportion of children entering a long-range rehabilitation program (from 33% in 2003 to 58% in 2009).

Infección diseminada por Strongyloides stercoralis en pacientes con enfermedades reumáticas / Disseminated strongiloidiasis in patients with rheumatic diseases

La infección por Strongyloides stercoralis puede desarrollarse de manera asintomática, sobre todo en aquellos individuos portadores de una enfermedad reumática o que estén bajo tratamiento inmunosupresor.Describimos 24 pacientes con enfermedades reumáticas (lupus eritematoso sistémico, artritis reumáticas, dermatomiositis, polimiositis) que se presentaron con síntomas que imitaron un brote de la enfermedad de base (fiebre, artritis, artralgias, serositis, compromiso renal, dolor abdominal, etc.), presentando solo 6 de ellos eosinofilia periférica. También presentamos otro paciente que concurrió a la consulta con síntomas que imitaron una enfermedad del tejido conectivo (derrame pleural y peritoneal, etc.), anemia, plaquetopenia y p-ANCA (+). El parásito se halló en los exámenes de materia fecal en la mayoría de ellos y en otros en biopsia duodenal. De los 25 pacientes, 4 fallecieron.

Strongyloides stercoralis infection may develop in individuals with asymptomaticinfection, being carriers of a rheumatic disease or receivingimmunosuppressive treatment.We describe twenty-four patients with rheumatic diseases (systemic lupuserythematosus, rheumatoid arthritis, polymyositis, dermatomyositis,etc.) presenting symptoms that mimicked a flare of the rheumatic disease(fever, arthritis, arthralgia, serous and renal involvement, abdominalpain). Only six of them showed increased peripheral eosinophils.There was another patient who came with symptoms that mimicked aconnective tissue disease, such as pleural and peritoneal effusion, andlaboratory test that showed the presence of anemia, thrombocytopeniaand positive p-ANCA. Strongyloides stercoralis was found in the majorityof them and in the other by duodenal intubation and biopsy. Four out of25 patients died.

Hallazgos clínicos y radiográficos en la articulación temporomandibular en pacientes con artritis reumatoidea / Clinical and radiographic findings in temporomandibular joints of patients with rheumatoid arthritis

Durante el curso de la artritis reumatoidea (AR), la enfermedad compromete a la articulación temporomandibular (ATM). Este artículo presenta los hallazgos encontrados durante el análisis de 190 ATMs en pacientes con AR y 44 controles sin AR, incluyendo una descripción de signos y síntomas, hallazgos radiográficos en la mano y en la ATM. La muestra incluía 57,89 por ciento de los pacientes asociados a dolor espontáneo en la ATM, 87,89 por ciento con signos de destrucción radiográfica, 58,94 por ciento con menos de 20 piezas dentarias. Apertura bucal disminuida en 42,1 por ciento y de este grupo el 71 por ciento bloqueada. Existió una asociación altamente significativa A/S (r=0,62) entre las erosiones de la mano y las de la ATM. La temprana evaluación de esta articulación y el trabajo en conlaboración entre el odontólogo y reumatólogo es necesario para un mejor manejo de la enfermedad.