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     

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.     

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.     

Sarcopenia y albúmina sanguínea: revisión sistemática con metaanálisis

Sarcopenia is characterized by loss of muscle mass during aging, which can have consequences for the individuals'' health. There are many ways to detect it, among them, with the use of blood biomarkers such as albumin, although the association between the two has not been confirmed yet.This review synthesizes the knowledge on the association between sarcopenia and serum albumin among elderly individuals through a systematic review and meta-analysis focused on the etiology and risk factors. We used the Joanna Briggs Institute software for the review and conducted a search in MEDLINE, Embase, CINAHL, and LILACS databases while two reviewers conducted an independent manual search. EpiDat, version 3.1 was used for the meta-analysis; mean differences with the albumin scores disaggregated by sarcopenia were analyzed by the random-effects model. The degree of heterogeneity was assessed with the DerSimonian and Laird Q test.We analyzed 630 articles and finally included 14 in the review. Higher blood albumin levels were found in the meta-analysis, which was statistically significant among the elderly adults who did not present sarcopenia compared to those who did. Although there are studies exploring the association between albumin and sarcopenia, there is a need to continue evaluating its association with biological markers and comparing them to verify which can be used to detect sarcopenia among the elderly.     

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.     

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.     

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.     

Regulación de los servicios de medicina nuclear: percepción de la problemática y desafíos para el manejo del cáncer en Colombia

Introduction:

Colombia has modified the nuclear medicine norms that impact the administration of radioactive iodine therapy in the treatment of thyroid cancer.

Objective:

To identify the areas of agreement regarding the issue, as well as the current and emergent requirements associated with the normative for the operation of nuclear medicine services that have an impact on the care of patients with thyroid cancer in Colombia.

Materials and methods:

We conducted a two-round Delphi study for each expert, clinical, and regulatory group. The first round explored views on the implications of the regulations that apply to nuclear medicine. The second round rated the statements from the first round by their relevance.

Results:

The issues regarding nuclear medicine services were related to the normative clarity and the lack of synergy and coherence among inspection, surveillance, and control bodies. The demands on the waste management system require a high economic investment that can influence the service offer and have an impact on the integral control of thyroid cancer. Unification of the auditors’ criteria, delimitation of the acting agent functions, technical assistance to the services to comply with the normative, and the oversight of the inspection, surveillance, and control bodies by the regulatory entities are among the current and future needs.

Conclusions:

Our findings suggest that nuclear medicine services are going through a time of multiple institutional, regulatory, and economic challenges that put at risk the development and maintenance of nuclear medicine in cancer care.Key words: Thyroid neoplasms, nuclear medicine, radioactive waste, radioisotopes, health services

La medicina nuclear utiliza radionúclidos con fines diagnósticos y terapéuticos para detectar y tratar tumores y enfermedades benignas. En el contexto de la oncología moderna, esta especialidad involucra el uso de elementos radiactivos para evaluar las funciones corporales, determinar el diagnóstico y el tratamiento, así como la conjunción de los dos (“teragnóstica”) ¹. Hay una gran variedad de radiofármacos utilizados en la medicina nuclear, pero en la mayoría de los procedimientos se recurre al tecnecio 99m (Tc^99m) y al yodo radioactivo (I¹³¹) ².El cáncer de tiroides es la neoplasia endocrina más común (1,0-1,5 %), y es la quinto más frecuentemente diagnosticada en mujeres, con un incremento continuo en su incidencia mundial en los últimos 30 años ³. En el cáncer diferenciado de tiroides, el tratamiento con I¹³¹ se administra con tres propósitos: como tratamiento ablativo para eliminar tejido tiroideo residual sano después de una tiroidectomía; como tratamiento adyuvante para tratar la enfermedad residual microscópica, y como dosis terapéutica para tratar la enfermedad macroscópica o metastásica ⁴. Dependiendo del tipo de tratamiento, los pacientes sometidos a terapia con I¹³¹ son hospitalizados en habitaciones especiales, con el fin de controlar la irradiación a otros pacientes, familiares y cuidadores ⁵.Al igual que en muchos países, en Colombia las habitaciones utilizadas para la terapia con yodo radioactivo están ubicadas en instituciones especializadas de prestación de servicios de salud ⁶, las cuales están sujetas a inspecciones por parte de los organismos de inspección, vigilancia y control de la seguridad radiológica y nuclear. En el último quinquenio, las autoridades nacionales competentes en materia nuclear han modificado las normas que permiten prestar servicios de medicina nuclear debido a las exigencias en el otorgamiento de autorizaciones para el empleo de fuentes radiactivas y la gestión de los desechos radiactivos liberados en el suelo, los cuerpos de agua o los sistemas de recolección de aguas residuales por medio de la orina y las excretas del paciente o la descarga de desechos líquidos hospitalarios ⁷.Dicha regulación está ajustada a las directrices del Organismo Internacional de Energía Atómica (OIEA), del cual Colombia es miembro. Para honrar los compromisos adquiridos con este organismo en torno a una seguridad nuclear que proteja la salud humana, el país estableció desde el 2002 un marco regulador fundamental para el uso seguro de material radiactivo ⁸. En el

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.