Reactivación de la enfermedad de Chagas después de trasplante autólogo de progenitores hematopoyéticos. Reporte de caso y revisión de la literatura

Introduction:

Chagas disease is an endemic parasitic infection in Latin America transmitted by triatomines. It is associated with risk factors such as poverty and rurality. After acute infection, a third of patients will present target organ involvement (heart, digestive tract, central nervous system). The remaining two thirds remain asymptomatic throughout their life. Pharmacological immunosuppression breaks the balance between the immune system and the parasite, favoring its reactivation.

Clinical case:

We present the case of a 58-year-old man from a Colombian rural area with a diagnosis of multiple myeloma refractory to the first line of treatment who required a new chemotherapy scheme and consolidation with autologous stem cell transplant. During the post-transplant period, he suffered from febrile neutropenia. Initial microbiological studies were negative but the peripheral blood smear evidenced trypomastigotes in blood. With a diagnosis of acute Chagas disease in a post-transplant patient, benznidazole was started. The evolution of the patient was satisfactory.

Conclusions:

Positive serology prior to transplantation makes it necessary to rule out reactivation of the pathology in the setting of febrile neutropenia. More studies are required to determine tools for estimating the probability of reactivation of the disease and defining the best cost-risk-benefit relation for the prophylactic therapy.     

Importancia de la determinación de variantes en el número de copias en neonatos con aneuploidías autosómicas

Introduction:

Aneuploidies are frequent genetic disorders in clinical practice. However, little is known about other genetic variants that may influence the final phenotype.

Objective:

To determine the variations in the number of copies and regions with homozygosity greater than 0.5% or larger than 10 Mb in newborns with autosomal aneuploidies.

Materials and methods:

We performed a chromosomal microarray analysis on newborns with autosomal aneuploidies (n=7), trisomy 21 (n=5), and trisomy 18 (n=2) evaluated at the Hospital Antonio Lorena and Hospital Regional of Cusco, Perú, during 2018.

Results:

We found pathogenic and probably pathogenic variants in the number of copies in other genomic regions different to chromosomes 21 or 18 in two neonates. Additionally, we found two variants bigger than 500 kpb of unknown pathogenicity.

Conclusions:

Although the number of analyzed individuals was small, it is important to highlight that we found other variants in the number of copies that have been described in association with neurodevelopmental disorders, congenital anomalies, deafness, and short/ tall stature, among others, in almost half of them, which will probably impact the phenotype negatively in patients with aneuploidies.     

Análisis del impacto presupuestal en Colombia de la prueba de HPV con genotipificación comparada con la citología

Introduction:

The detection of the human papillomavirus (HPV) through the combination of the HPV test and other techniques such as cytology has impacted the detection and timely treatment of lesions associated with cervical cancer.

Objective:

To estimate the budgetary impact of the strategy of early detection of HPV with DNA test genotyping with reflex cytology versus conventional cytology in women aged 30 to 65 years attending the cervical cancer screening program at a health benefit managing entity in Colombia.

Materials and methods:

Using a decision tree and a Markov model, the clinical implications and direct costs of screening, diagnosis, and treatment were estimated in a cohort of women. The analysis considered two screening cycles and their annual costs. The data on the prevalence of clinical results and the costs were taken from the health managing entity. The information on the progression, persistence, and regression of the health states were taken from the ATHENA study.

Results:

The screening scheme with the HPV test, genotyping, and reflex cytology compared to conventional cytology was cost-saving. The average cost per screening cycle with the HPV test was estimated at COP $ 129,201,363 and with cytology at COP $ 186,309,952, i.e., a saving of COP $ 57,108,589 (30.7%).

Conclusion:

The implementation of the screening strategy under evaluation suggests prospective savings derived from the early detection of health states associated with the development of cervical cancer.     

Histiocitosis de células de Langerhans: reporte de caso y revisión de la literatura

Histiocytosis comprises a heterogeneous group of inflammatory diseases whose main cellular components are dendritic cells and macrophages. The inflammatory infiltrate can affect the skin and other organs and the clinical outcome varies from mild to fatal depending on the involved cell subset and multisystemic compromise. Delay in diagnosis may occur due to its non-specific presentation and to a low suspicion on the part of the clinician. We report the case of an infant who despite multiple consultations with nonspecific but characteristic symptoms of the disease was only finally diagnosed thanks to histopathological findings.     

Evaluación de la efectividad de la prueba rápida OptiMAL-IT™ para el seguimiento de pacientes con diagnóstico de malaria en la Amazonía peruana

Introduction:

In Peru, optical microscopy with the thick smear test continues to be performed for the follow-up of malaria patients. This test is simple but it requires microscopic equipment and suitable staff to perform the reading of the samples. Studies suggest that the rapid OptiMAL-IT™ test is an option for follow-up.

Objective:

To evaluate the effectiveness of OptiMAL-IT™ as a follow-up test in malaria patients in endemic areas of Perú.

Materials and methods:

We conducted an observational, analytical cross-sectional study of diagnostic tests performed in patients with malaria. We selected all the patients attending different health facilities in the Peruvian departments of San Martín and Loreto who met the inclusion criteria. Optical microscopy with thick smear and OptiMAL-IT™ was used on days 2, 3, 7, and 14 for Plasmodium vivax and until day 21 of follow-up for Plasmodium falciparum. Percentages of correctly classified samples and predictive values were calculated, and the results were compared between the western jungle and the eastern jungle using Chi2 or Fisher''s exact tests.

Results:

We registered 262 patients from San Martín and 302 from Loreto. The percentage of correctly classified cases and the negative predictive value were higher than 92.0% and 93,0%, respectively, from the third day of follow-up; no statistical differences were found in the results obtained from the western jungle and those from the eastern jungle.

Conclusions:

The OptiMAL-IT™ test would be effective as a follow-up test in patients diagnosed with malaria in endemic areas of Perú.     

Vasoconstricción cerebral fatal,presentación inusual de una enfermedad inusual

The reversible cerebral vasoconstriction syndrome is a variable, segmental, and multifocal constriction of brain arteries, usually with a benign course.We describe the case of a 49-year-old woman who presented with headaches, visual symptoms, and seizures. Three days after admission, vasoconstriction areas were found in at least two vascular territories in two segments of the same arteries.The patient was admitted to the intensive care unit where her blood pressure was monitored and she received medical treatment. Surprisingly, the patient presented an unpredicted evolution in developing malignant cerebral edema on the seventh day after admission. She then suffered brain death and was taken to organ donation. A guided nervous system necropsy was later performed. The pathology discarded vasculitis and exhibited hemorrhage areas in the cerebral convexity.Herein, we discuss the most relevant aspects of cases with fulminant evolution reported in the literature. The reversible cerebral vasoconstriction syndrome is usually associated with fatal outcomes when patients exhibit focalization, their first neuroimaging typically shows disturbances, and a rapid clinical deterioration occurs. It is crucial to identify factors linked to poor prognosis and set intervention strategies and early prevention.Key words: stroke, brain hemorrhage, vasoconstriction, mortality, prognosis

El síndrome de vasoconstricción cerebral reversible se produce por una vasoconstricción variable, segmentaria y multifocal, de las arterias cerebrales (1).Esta condición patológica es más común en mujeres entre los 10 y los 76 años, con un pico a los 42 años (2). Hasta en el 70% de los pacientes puede haber factores precipitantes (3), entre los cuales se han mencionado estrés emocional y físico, actividad sexual, puerperio, trauma, maniobra de Valsalva, y uso de sustancias vasoactivas o de inhibidores selectivos de la recaptación de serotonina (4-6).Los hallazgos clínicos son diversos, pero se sabe que la forma más común de presentación clínica es la cefalea “en trueno” (7). La principal herramienta diagnóstica es la angiografía cerebral, considerada la prueba de referencia, aunque no es el único estudio de imagenología que se puede utilizar como método de evaluación (3,8).A pesar de que muchos casos se resuelven de forma espontánea, algunos pacientes pueden desarrollar complicaciones como hemorragia, convulsiones e infartos cerebrales (3), e incluso, se han reportado casos fatales asociados con este síndrome (9-12).Se presenta el caso de una paciente que falleció. Se describe la secuencia de eventos clínicos que llevaron a su muerte, haciendo énfasis en aquellos factores que deben alertar sobre un posible curso fulminante.     

Conflicto armado,contaminación y riesgos en salud: una evaluación de riesgo de tres fuentes de exposición ambiental asociadas con el conflicto en Colombia

Introduction:

Armed conflicts affect territories rich in resources and biodiversity. As a result of the environmental damage caused by violent actions, the health of populations can be affected.

Objectives:

To assess the risks to human health due to environmental degradation associated with three violent actions in the context of the Colombian armed conflict: Pipeline bombing, informal mining with mercury, and spraying of illicit crops with glyphosate.

Materials and methods:

We conducted a quantitative evaluation of the risks to individual health associated with armed conflict activities using methodologies focused on the routes of pollutants dispersion, their concentrations in the environment, the exposure of the individuals, and the risks of carcinogenic and non-carcinogenic effects.

Results:

The risk assessment of the armed conflict-related actions under study evidenced intolerable carcinogenic risk and unacceptable non-carcinogenic risk due to the consumption of water and fish contaminated by polycyclic aromatic hydrocarbons (PAH), mercury, and glyphosate.

Conclusions:

The study reiterates the inextricable connections existing among the environment, society, and health, as well as the implications of environmental violence for the public health of vulnerable population groups and, in general, for the well-being of all living beings affected by the armed conflict.     

Definición diagnóstica en una familia con malattia leventinese en Colombia

The malattia leventinese is an autosomal dominant inherited disease whose symptoms appear between the second and fourth decades of life. It is characterized by the appearance of drusen located between the retinal pigment epithelium and the Bruch membrane. It is usually associated with low vision and may progress to blindness. The pathogenic variant p.Arg345Trp in the EFEMP1 gene has been associated with this disease. We characterized clinically and molecularly a family with malattia leventinese using a comprehensive approach that involved ophthalmologists, pediatricians, and geneticists. This approach is of great importance since the phenotype of this disease is often confused with macular degeneration. All family members underwent ophthalmological evaluation and DNA extraction from a peripheral blood sample. All exons of the EFEMP1 gene were amplified and sequenced. The pathogenic variant p.Arg345Trp was identified in affected individuals in this family.This is the first report of malattia leventinese in a family with the p.Arg345Trp pathogenic variant in Colombia. The molecular diagnosis of retinal dystrophies is essential to differentiate this type of pathology.     

Inserción “velamentosa”, encefalopatía hipóxico-isquémica y rehabilitación neurológica: reporte de caso

La encefalopatía hipóxico-isquémica es una causa frecuente e importante de daño neurológico en recién nacidos a término y prematuros. Un evento centinela de esta condición es la vasa previa, específicamente cuando existe anormalidad de la placenta como la inserción “velamentosa” del cordón umbilical. Algunos reportes evidencian la asociación entre estas dos condiciones, pero son escasos los que dan cuenta del proceso de recuperación y del pronóstico neurológico de los niños afectados por ellas.Se presenta el caso de un paciente, con antecedentes de inserción “velamentosa” del cordón umbilical y encefalopatía hipóxico-isquémica, que recibió hipotermia terapéutica (cool cap). Se describe su proceso de rehabilitación neurológica y se calculó el porcentaje de probabilidad de presentar esta condición frente a la población sin estos factores. El niño tenía cinco años y el puntaje en su prueba de Apgar fue de 0 al minuto y de 2 a los 15 minutos. Desarrolló encefalopatía hipóxico-isquémica grave secundaria a una inserción “velamentosa” del cordón umbilical sin diagnóstico prenatal, con gran compromiso neurológico y multisistémico inicial. El proceso de recuperación incluyó el manejo inicial multidisciplinario en la unidad de cuidados intensivos neonatales y el inicio temprano de habilitación neurológica.Hoy el niño está escolarizado y en terapia integral, no presenta deficiencias motoras ni sensoriales en el examen físico, aunque la prueba neuropsicológica sugiere un riesgo de trastorno por déficit de atención e hiperactividad. Habitualmente, los niños con encefalopatía hipóxico-isquémica grave presentan discapacidad por deficiencias motoras, cognitivas o conductuales. El haber recibido hipotermia terapéutica y un manejo estructurado de rehabilitación redujo en gran medida las deficiencias esperadas y ha promovido un satisfactorio desarrollo físico y neurológico.Palabras clave: cordón umbilical, hipoxia-isquemia encefálica, hipotermia inducida, rehabilitación neurológica     

Expresión de los componentes del inflamasoma y su relación con los marcadores de riesgo cardiovascular en personas con infección por HIV-1

Introduction:

HIV-1 infection induces a chronic inflammatory state in which inflammasomes participate. The increase in inflammatory parameters is higher in individuals with active viral replication (progressors) than in those with viral control (HIV-1 controllers). This process triggers metabolic alterations related to changes in the lipid profile, which could increase the risk of cardiovascular events, even in patients with antiretroviral therapy.

Objective:

To establish whether there was a correlation between the expression of inflammasome components and cardiovascular risk markers in HIV-1 controllers and progressors with or without antiretroviral therapy.

Materials and methods:

We studied 13 HIV-1 controllers and 40 progressors (19 without antiretroviral therapy and 31 with therapy) and evaluated in them classic markers of cardiovascular risk. Using RT-PCR we quantified the expression of inflammasome components (NLRP1, NLRP3, NLRC4, AIM2, ASC, IL-1β, IL-18, and caspase-1), TLR2, TLR4, TGF-β, and IL-10.

Results:

Progressors with antiretroviral therapy had an increased expression of TLR2, TLR4, and IL-18 compared to HIV-1 controllers. They also showed high levels of triglycerides and VLDL, which positively correlated with the expression of the inflammasome components NLRP1, NLRP3, NLRC4, AIM2, ASC, and caspase-1.

Conclusion:

Progressors receiving antiretroviral therapy exhibited an increased expression of the inflammasome components, which correlated with the levels of triglycerides and VLDL. This supports the role of inflammation in cardiovascular risk during HIV-1 infection.     

Deficiencia visual y neurológica posterior a la disfunción del sistema de derivación ventrículo-peritoneal: reporte de caso

Neurological visual impairments in children have multiple causes, some of them reversible while others are not. Hydrocephalus is one of the most important and common ones as it can result in permanent impairment. There are multiple causes of hydrocephalus, intraventricular hemorrhage being the main one. This generally occurs when the germinal matrix bleeds and is very common in preterm newborns.We present the clinical case of a patient with cerebral palsy, intraventricular hemorrhage, and hydrocephalus as a result of a preterm multiple pregnancy who developed optic atrophy during childhood secondary to ventricle-peritoneal shunt dysfunction. During the rehabilitation and treatment period, she received neurorehabilitation sessions, which improved her visual acuity and capacity. We found similarities and differences with other cases and we confirmed the importance of the treatment chosen for the recovery of visual capacity.     

Psoriasis verrugosa en un hombre con antecedentes de psoriasis en placa,reporte de caso y revisión de la literatura

Verrucous psoriasis is an atypical and rare variant of psoriasis with few cases reported in the literature. It is characterized by the presence of symmetric hypertrophic and verrucous plaques on the limbs and trunk.We present the case of a 63-year-old male patient with a history of vulgar psoriasis for 20 years who was receiving treatment with topical steroids and had developed a verrucous plaque in the distal third of the posterior aspect of the leg 10 years before. We conducted a biopsy of the lesion to confirm or discard the diagnostic impression of squamous cell carcinoma (verrucous). The histopathological study showed changes compatible with verrucous psoriasis ruling out the presence of malignancy.     

Evaluación de las características operativas de la versión 2.2018 del instrumento de evaluación del malestar emocional de la National Comprehensive Cancer Network en pacientes atendidos en el Instituto Nacional de Cancerología,Bogotá

Introduction:

Cancer patients have significant levels of emotional distress. The National Comprehensive Cancer Network (NCCN) developed the distress management tool to quickly assess significant distress in oncological patients who require intervention. For its use in Colombia, we made its cross-cultural adaptation and validation.

Objective:

To determine the operative characteristics of the distress management tool, version 2.2018, in patients seen at the Instituto Nacional de Cancerología (INC) in Colombia.

Materials and methods:

Counting with the authorization from the NCCN, we translated, made the cross-cultural adaptation, and evaluated the operational characteristics of the tool. We included 343 cancer patients seen at the INC, who filled out the cross-culturally adapted instrument. A diagnostic test study was carried out with a semi-structured interview as a reference.

Results:

The patients had an average age of 49.7 years (SD=15) and the majority were women (67%). The instrument had an area under the ROC curve of 0.81 (95% CI: 0.77 - 0.86); its optimal cut-off point was 3.5 approached to 4 when using integers on the scale; its sensitivity was 0.81 (95% CI: 0.76 - 0.85), and its specificity, 0.69 (95% CI: 0.64 - 0.74). The agreement percentage between the result of the interview and the instrument was 73% (kappa = 0.64; p< 0.001).

Conclusions:

The distress management tool allowed for the detection of moderate to severe distress requiring intervention and management. This instrument was adapted and validated in cancer patients in Colombia keeping the cutoff point at ≥ 4 as in the original version.     

Nueva mutación en el gen KMT2B como causa de distonía generalizada de inicio temprano: reporte de caso

Introduction:

KMT2B-related dystonia is a recently described subtype of focal-onset dystonia in the lower limbs, evolving into a generalized form with cervical, oropharyngeal involvement, dysarthria, swallowing disorder and intellectual disability.

Clinical case:

We describe the case of a 10-year-old female patient, without a history of consanguinity or neurological disease. She manifested abnormal gait and dystonia with focal onset and progressive course with evolution into generalized dystonia, affecting orofacial and bulbar muscles, significant alteration of language and swallowing.Metabolic and systemic studies, including neuroimaging, were found to be normal. A complete genomic sequencing study was performed identifying a new, probably pathogenic, heterozygous variant in the KMT2B gene, c.1205delC, p. (Pro402Hisfs*5), causing displacement in the reading frame, a finding that explains the patient’s phenotype and it is associated to autosomal dominant childhood-onset dystonia-28.

Conclusion:

We report a new heterozygous mutation in the KMT2B gene as a cause of generalized early-onset dystonia not reported in the literature until the date. The diagnosis of this pathology has implications for the treatment and prognosis of patients, given that therapeutic strategies implemented early can prevent the fast deterioration and severe course of this disease.     

Epidermólisis ampollosa con atresia pilórica: reporte de dos casos en hermanos consecutivos

Pyloric atresia is a rare digestive malformation. It represents about 1% of intestinal atresias and is associated with some other genetic or anatomical alteration in 55% of the cases. In 20% of them, it is associated with epidermolysis bullosa, which is described as an established syndrome with a bad prognosis.We present two cases of consecutive siblings with this condition and fatal outcomes in both of them. We made a review of the literature and discussed the main topics.     

Consecuencias de los conflictos armados en la salud mental de niños y adolescentes: revisión de revisiones de la literatura

Introduction:

Armed conflicts affect the mental health of children and adolescents. Their outcomes in these populations have been documented identifying vulnerability and significant biopsychosocial damage as the most common factors.

Objective:

To identify and synthesize the mental health consequences of armed conflicts in children and adolescents.

Materials and methods:

We carried out a comprehensive and systematic search of reviews published until July 2019 in the MEDLINE (Ovid), EMBASE, Cochrane Central Register of Controlled Trials, and LILACS databases, as well as in additional sources. The information was retrieved and analyzed narratively by describing the characteristics and objectives of the studies and the mental health consequences of armed conflicts in three periods of time: pre-armed conflict, during the armed conflict, and post-conflict.

Results.

Out of 587 potentially relevant studies, we finally selected 72. In the pre-armed conflict period, we described in detail the psychological experiences and the anticipatory somatic symptoms. During the conflict, we identified regressive, behavioral, and cognitive symptoms such as enuresis, fear, sadness, aggression, hyperactivity, and inattention, among others. Direct mental health consequences such as adjustment disorders, depression, anxiety, and post-traumatic stress were also identified. Finally, in the post-conflict period, we referred to the transmission of mental health consequences and resilience processes. On the other hand, we reviewed in depth the potential consequences of armed conflicts on biopsychosocial development, morality, identity, culture, education, and society.

Conclusion.

The development of mental health consequences due to the exposure to armed conflicts in these populations is a complex process that depends on the stage of the exposure, the length of the conflict, and contextual factors.