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.     

Síndrome de Adams-Oliver y complicaciones asociadas: reporte de una familia en Colombia y revisión de la literatura

The Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita of the scalp, terminal transverse limb defects, and congenital telangiectatic cutis marmorata. It can occur through different inheritance patterns: autosomal dominant, autosomal recessive, or de novo dominant mutations.Although the Adams-Oliver syndrome is a rare disease, it is essential to know its clinical characteristics and inheritance patterns, to establish a correct diagnosis and its possible complications during follow-up.In the present study, we describe the case of an adolescent with Adams-Oliver syndrome with an autosomal dominant inheritance pattern, pulmonary hypertension and plastic bronchitis, and several compromised family members.Key words: Adams-Oliver syndrome, ectodermal dysplasia, limb deformities, congenital, inheritance pattern

Forrest H. Adams y C. P. Oliver describieron este síndrome por primera vez en 1945 en ocho miembros afectados de tres generaciones de una misma familia ¹. Desde entonces, se han reportado más de 200 casos de pacientes con esta misma entidad, y se estima una incidencia de 0,44 por 100.000 nacidos vivos. El síndrome de Adams-Oliver se caracteriza por aplasia cutis congénita del cuero cabelludo y defectos terminales transversales de las extremidades. Asimismo, existe un espectro amplio de afectaciones con compromiso cutáneo, neurológico, cardiovascular, locomotor, renal y ocular ².Esta enfermedad se ha asociado con diversos patrones de herencia, los cuales dependen de los genes implicados. Las mutaciones en los genes ARHGAP31³, NOTCH1^4,5, DLL4⁶ o RBPJ⁷ se han correlacionado con la herencia autosómica dominante, mientras que las mutaciones en los genes DOCK6⁸ o EOGT⁹ se asocian con la herencia autosómica recesiva. Asimismo, en algunos estudios se ha evidenciado una fuerte correlación entre el genotipo y la expresión del fenotipo, como el hallazgo de una proporción significativamente mayor de anomalías cardíacas congénitas en pacientes con AOS5 -una variante del gen NOTCH1 - lo que podría representar un subtipo distinto de síndrome de Adams-Oliver asociado con malformaciones cardíacas ⁵. De igual manera, la aparición aislada de este síndrome en algunas familias sugiere mutaciones dominantes de novo^4,10.Teniendo en cuenta la poca frecuencia de este síndrome, así como su relación familiar, se describe el caso de una adolescente y su familia, para que se tenga en cuenta como sospecha diagnóstica de nuevos casos.     

Pigmentación exógena por nitrato de plata: aspectos dermatológicos y toxicológicos,a propósito de un caso

Exogenous pigmentation by silver nitrate is a rare disease whose clinical manifestations appear even years after the contact, making its diagnosis difficult on occasions. It is characterized by the presence of blue-gray macules or plaques on the skin or mucosa in the contact area, sometimes very similar to melanocytic lesions and melanoma, which constitute the main differential diagnosis.We report the case of a male patient from Medellín, Colombia, with a family history of melanoma and the presence of these lesions throughout his body.     

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.     

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.     

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.     

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.     

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.     

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.     

Infiltración perineural por células fúngicas. Presentación de un caso y revisión de la literatura

The perineural spread by fungal cells during the progression of the infection could be an important prognostic factor, especially in mycoses localized in the rhino-orbito-cerebral and pulmonary areas. We present a clinical case of a 73-year-old male, with diabetes and acute myelomonocytic leukaemia that began with tumefaction on the left side of his face, spreading to the sinus with invasion of the soft tissues and fistulae in the oral cavity. Clinical examination showed cerebral involvement. The histopathological sections and the histochemical techniques showed perineural involvement by fungal cells. Although the patient was diagnosed and treated in a short period of time, he died due to the infection. We would like to alert that perineural spread could be a retrograde way of mycoses dissemination, particularly in infections located in areas rich in neural cells.     

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     

Fractura de odontoides en un paciente anciano con mala evolución final: a propósito de un caso y revisión de la bibliografía existente

Odontoid fractures are the most common cervical spine fracture in elderly patients, with falls being the most common mechanism of fracture in these patients. The clinical symptoms range from mild neck pain to quadriplegia, or even death. Treatment options include surgical and non surgical therapies, such as cervical collar or halo vest.