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.     

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.     

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.     

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.     

Malaria importada en población pediátrica de Alicante,España (1994-2019)

Introduction:

In recent years there has been an increase in imported malaria among children in whom it is a potentially serious and fatal disease.

Objective:

To describe the incidence and the clinical and epidemiological characteristics of malaria in children diagnosed in Alicante, Spain, over a 26-year period.

Materials and methods:

We conducted an observational retrospective study of malaria in children aged under 15 years diagnosed at the Alicante General University Hospital from 1994 to 2019.

Results:

Twenty-four cases were registered over the study period. The frequency of cases increased from 2 over the first five years to 11 in the last five years. The median age of the children was 6 years (interquartile range: 3-8); 91.6% came from sub-Saharan Africa. Over half (n=15, 62.5%) were children born in Spain to immigrant parents visiting friends and relatives (VFR); just one (6.7%) had received antimalarial chemoprophylaxis.The most frequent clinical signs were fever (86.9%), hepatosplenomegaly (70.8%), and anemia (70.8%). Plasmodium falciparum was the most frequently identified species (83.3%, n=20). The most common treatment was oral piperaquine/dihydroartemisinin (41.6%, n=10) with favorable outcomes in all cases.

Conclusions:

Imported childhood malaria shows an increasing incidence and a nonspecific clinical presentation. Professional awareness of this disease and a high degree of clinical suspicion are needed for the early initiation of treatment. Pre-travel preventive measures should be promoted when appropriate.     

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.     

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.     

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.     

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.     

Clima de aprendizaje y enganche al trabajo del residente clínico: relación con la autodeterminación humana

Introduction:

The learning climate is a factor associated with the clinical resident’s engagement in work activities and the improvement of students’ well-being in the workplace through their self-determination during clinical rotation.

Objective:

To determine the relationship between the learning climate measured with the D-RECT 35 scale and residents’ self-determination and commitment to work using the UWES 17 scale.

Materials and methods:

We conducted a cross-sectional correlational study with residents of surgical medical specialties in clinical rotation at the practice site and who completed the measurement questionnaires.

Results:

We evaluated 188 residents of clinical specialties. The median of the results in the learning climate scale was 3.9/5.0; in the self-determination scale, 4.86/7.0, and in the job engagement scale, 5.0/6.0. The learning climate was considered adequate and a positive relationship was found with self-determination and the residents’ attachment to their activities; these correlations were statistically significant.

Conclusions:

Adequate learning climates are positively related to the ability to engage in work activities and the self-determination of clinical residents as they favor collaborative work and access to supervision generating greater autonomy and more enthusiasm and dedication to assigned activities. This can drive improvements in educational programs in clinical departments and translate into safer patient care.     

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.     

Leptospirosis y rickettsiosis,reto diagnóstico para el síndrome febril en zonas endémicas

This is the case of a 50-year-old male from the region of Urabá, Colombia, with a mixed infection by Rickettsia rickettsii and Leptospira interrogans serovar Copenhageni ST78 and negative test for malaria and dengue fever.The patient presented with febrile syndrome and was unresponsive to systemic antibiotic treatment, who finally died in the intensive care unit. We established the postmortem diagnosis through molecular typification of the two etiological agents. In the inspection at the patient’s home, we found a Rattus rattus specimen infected with L. interrogans of the same serovar found in him. We found no ticks parasitizing the domestic animals cohabitating with the patient.This case of a mixed infection with progressive and fatal symptoms in a patient with occupational risk in a tropical disease endemic zone highlights the importance of considering the potential presentation of simultaneous etiologies in patients with multiple medical visits for unresolved febrile syndromes associated with risky exposure during agricultural activities.     

Detección molecular de Toxoplasma gondii en carnes para consumo humano en Ibagué, Colombia

Introduction:

Toxoplasma gondii is a parasite with great zoonotic potential. It can infect a broad range of warm-blooded hosts (including livestock) and causes significant losses in the industry. In humans, it has been described as a pathogen in immunosuppressed people, it affects the fetus development in congenital infections, and is associated with various behavioral disorders in healthy people. Humans can acquire T. gondii by consuming undercooked, contaminated meat.

Objective:

To determine T. gondii positivity (currently unknown) in meat for human consumption (i.e., beef, chicken, and pork) in the city of Ibague, Colombia.

Materials and methods:

We used conventional nested PCR and the T. gondii B1 gene sequence as amplification target. We collected samples of meat (N=186) sold in the urban area of Ibagué (62 beef, 62 chicken, and 62 pork samples) and determined the T. gondii positivity percentage for each type of meat.

Results:

The study found an average of 18.8% positivity for all meat samples, pork having the highest percentage (22.5%; 14/62), followed by beef (19.3%; 12/62) and chicken (14.5%; 9/62). The best-amplified products were sequenced by macrogen and aligned with the B1 gene sequences in GenBank, thereby confirming their identity.

Conclusions:

This is the first study of T. gondii prevalence in meat for human consumption carried out in the city of Ibagué and the department of Tolima. All three types of meat sampled represent a risk for local human infection.     

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