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Abstract Introduction The frequency of mother-to-child transmission (MTCT) of human immunodeficiency virus (HIV) in Latin America has decreased considerably. However, new infections continue to be recorded, and the pediatric population remains one of the most vulnerable groups in this region. The main objective of the study was to describe the clinical, epidemiological and psychosocial characteristics of new diagnoses of HIV MTCT in 2018 in the PLANTAIDS network (Paediatric Network for Prevention, Early Detection and Treatment of HIV in Children) during the 3 years following diagnosis. Methodology Retrospective, multicenter, descriptive study based on a 3-year follow-up of patients diagnosed with HIV infection due to MTCT in 2018 in 10 hospitals in 8 Latin American countries (Costa Rica, Ecuador, Mexico, Honduras, El Salvador, Panama, Guatemala and Venezuela). The hospitals belonged to the PLANTAIDS network, which is included in CYTED (Ibero-American Programme of Science and Technology for Development). Results The study population comprised 72 pediatric patients (38.9% male). The median age at diagnosis was 2.4 years (IQR: 0.8–5.4). There were 35 cases of opportunistic infections corresponding to 25 patients (34.7%), with tuberculosis being the most common. Adequate childhood vaccination coverage was achieved in 80.5%. There were 3 cases of acute SARS-CoV-2 infection, and these were asymptomatic or mildly symptomatic. According to the Centers for Disease Control and Prevention (CDC) classification, the most frequent clinical-immunological stage at all check-ups was C1. Three patients died from opportunistic infections and/or advanced HIV infection. Conclusions It is important to diagnose HIV infection early in pediatrics, since early initiation of ART is associated with a decrease in mortality. Despite this, HIV infection has a poor prognosis in children, necessitating adequate follow-up to ensure adherence to health care and ART, although it can sometimes prove difficult in children.

Abstract Background/Objectives Ataxia telangiectasia (A‐T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A‐T. We aimed to understand the current international practice regarding cancer surveillance in A‐T and agreed‐upon approaches to develop cancer surveillance in A‐T. Design/Methods We used a consensus development method, the e‐Delphi technique, comprising three rounds. Round 1 consisted of a Delphi questionnaire and a survey that collected the details of respondents' professional background, experience, and current practice of cancer surveillance in A‐T. Rounds 2 and 3 were designed based on previous rounds and modified according to the comments made by the panellists. The pre‐specified consensus threshold was ≥75% agreement. Results Thirty‐five expert panellists from 13 countries completed the study. The survey indicated that the current practice of cancer surveillance varies widely between experts and centres'. Consensus was reached that evidence‐based guidelines are needed for cancer surveillance in people with A‐T, with separate recommendations for adults and children. Statements relating to the tests that should be included, the age for starting and stopping cancer surveillance and the optimal surveillance interval were also agreed upon, although in some areas, the consensus was that further research is needed. Conclusion The international expert consensus statement confirms the need for evidence‐based cancer surveillance guidelines in A‐T, highlights key features that the guidelines should include, and identifies areas of uncertainty in the expert community. This elucidates current knowledge gaps and will inform the design of future clinical trials.

Abstract Background Important prevention efforts have led to a reduction in mother-to-child transmission of HIV (MTCT) globally. However, new cases of paediatric HIV infections still occur. Early diagnosis of new HIV infections is essential to start an appropriate antiretroviral treatment to avoid childhood morbidity and mortality related to infection. The aim of this study was to describe the new cases of MTCT in Latin-American referral hospitals. Methods A retrospective, multicentre and descriptive study of the new cases of MTCT diagnosed during 2018 in 13 referral hospitals from 8 Latin-American countries (Costa Rica, Ecuador, El Salvador, Guatemala, Honduras, Mexico, Nicaragua, and Panama) belonging to PLANTAIDS (Paediatric Network for Prevention, Early Detection and Treatment of HIV in Children), was conducted. PLANTAIDS is included in CYTED (Ibero-American Programme of Science and Technology for Development). Results Eighty-one children (40.7% males) were included, median age at diagnosis of 2.33 years (IQR:0.7–4.7). Less than 3% of women knew their HIV diagnosis before pregnancy. More than 80% of them were diagnosed after delivery, 8.7% during pregnancy, and 2.9% at delivery. Only one patient underwent antiretroviral therapy (ART) prior to pregnancy. At diagnosis, 50.0% of the children presented with an advanced stage of disease (stage C following the current CDC classification for HIV infection), and 34.4% had less than 15% CD4+ cells/mm3. The time elapsed between delivery and the maternal diagnosis was correlated with the age of children at diagnosis, ρ = 0.760, p

Abstract Granulocyte colony–stimulating factor (G-CSF) has raised much interest because of its role in cocaine addiction in preclinical models. We explored the plasma concentrations of G-CSF in patients diagnosed with substance use disorder (SUD) and highly comorbid psychiatric disorders. In particular, we investigated the association between G-CSF concentrations and comorbid major depressive disorder (MDD) in patients with cocaine and alcohol use disorders (CUD and AUD, respectively). Additionally, patients with MDD but not SUD were included in the study. Three hundred and eleven participants were enrolled in this exploratory study: 136 control subjects, 125 patients with SUD (SUD group) from outpatient treatment programs for cocaine (N = 60, cocaine subgroup) and alcohol (N = 65, alcohol subgroup), and 50 patients with MDD but not SUD (MDD group) from primary-care settings. Participants were assessed based on DSM-IV-TR criteria, and a blood sample was collected to examine the plasma concentrations of G-CSF. G-CSF concentrations were negatively correlated with age in the entire sample (r = − 0.233, p

The present study characterizes the oral pharmacokinetics of D-Pinitol, a natural insulin mimetic inositol, in human healthy volunteers (14 males and 11 females). D-Pinitol absorption was studied in (a) subjects receiving a single oral dose of 15 mg/kg (n = 10), or (b) 5 mg/kg pure D-Pinitol (n = 6), and (c) subjects receiving D-Pinitol as part of carbohydrate-containing carob pods-derived syrup with a 3.2% D-Pinitol (Dose of 1600 mg/subject, n = 9). The volunteers received a randomly assigned single dose of either D-Pinitol or carob pod-derived syrup. Blood samples were collected at 0, 15, 30, 45, 60, 90, 120, 180, 240, 360 and 1440 min after intake. Plasma concentration of D-Pinitol was measured and pharmacokinetic parameters obtained. The data indicate that when given alone, the oral absorption of D-Pinitol is dose-dependent and of extended duration, with a Tmax reached after almost 4 h, and a half-life greater than 5 h. When the source of D-Pinitol was a carob pods-derived syrup, Cmax was reduced to 40% of the expected based on the data of D-Pinitol alone, suggesting a reduced absorption probably because of competition with monosaccharide transport. In this group, Tmax was reached before that of D-Pinitol alone, but the estimated half-life remained the same. In the D-Pinitol groups, plasma concentrations of glucose, insulin, glucagon, ghrelin, free fatty acids, and pituitary hormones were additionally measured. A dose of 15 mg/kg of D-Pinitol did not affect glucose levels in healthy volunteers, but reduced insulin and increased glucagon and ghrelin concentrations. D-Pinitol did not increase other hormones known to enhance plasma glucose, such as cortisol or GH, which were surprisingly reduced after the ingestion of this inositol. Other pituitary hormones (gonadotropins, prolactin, and thyroid-stimulating hormone) were not affected after D-Pinitol ingestion. In a conclusion, D-Pinitol is absorbed through the oral route, having an extended half-life and displaying the pharmacological profile of an endocrine pancreas protector, a pharmacological activity of potential interest for the treatment or prevention of insulin resistance-associated conditions.

(1) Background: Co-occurrence of mental and substance use disorders (SUD) is prevalent, but complicates their clinical courses, and specific biomarkers are required. Amino acids are altered in primary mental disorders; however, little is known about SUD and psychiatric comorbidity. Because most psychiatric disorders and biomarkers show sex differences, we investigated amino acids in men and women with alcohol and/or cocaine use disorders (AUD and/or CUD) and psychiatric comorbidity. (2) Methods: A cross-sectional study was conducted in 295 participants, who were divided into four groups (AUD, n = 60; CUD, n = 41; AUD + CUD, n = 64; and control, n = 130). Participants were clinically assessed, and plasma amino acid concentrations were analyzed in relation to sex, diagnosis of SUD and psychiatric comorbidity (3) Results: In the total sample, there were sex differences, and women showed lower Iso, Leu, Gln and Glu than men. While patients with CUD and AUD + CUD had higher Glu, Gly, Orn and Ser than controls, patients with AUD showed no differences. In SUD, patients with psychiatric comorbidity had lower Orn and higher Ala than non-comorbid patients in the AUD group. (4) Conclusions: There was a dysregulation of plasma amino acids in abstinent patients with SUD. However, our results suggest the importance of considering the clinical characteristics and sex in the validity of amino acids as potential biomarkers for SUD.

Preclinical evidence suggests a main role of lysophosphatidic acid (LPA) signaling in drug addiction. Recently, we reported alterations in the plasma concentrations of LPA species in patients with alcohol use disorder (AUD). As there are sex differences in drug addiction, the main aim of the present study was to investigate whether relevant LPA species (16:0-LPA, 18:0-LPA, 18:1-LPA, 18:2-LPA and 20:4-LPA) were associated with sex and/or substance use disorder (SUD). This exploratory study was conducted in 214 abstinent patients with lifetime SUD, and 91 healthy control subjects. The SUD group was divided according to the diagnosis of AUD and/or cocaine use disorder (CUD). Participants were clinically assessed, and plasma samples were collected to determine LPA species and total LPA. We found that LPA concentrations were significantly affected by sex, and women showed higher concentrations than men. In addition, there were significantly lower 16:0-LPA, 18:2-LPA and total LPA concentrations in patients with SUD than in controls. Namely, patients with CUD and AUD + CUD showed lower LPA concentrations than controls or patients with AUD. In conclusion, our data suggest that LPA species could be potential biomarkers for SUD in women and men, which could contribute to a better stratification of these patients in treatment programs.

Lysophosphatidic acid (LPA) is an endogenous lysophospholipid and a bioactive lipid that is synthesized by the enzyme autotaxin (ATX). The ATX–LPA axis has been associated with cognitive dysfunction and inflammatory diseases, mainly in a range of nonalcoholic liver diseases. Recently, preclinical and clinical evidence has suggested a role of LPA signaling in alcohol use disorder (AUD) and AUD-related cognitive function. However, the ATX–LPA axis has not been sufficiently investigated in alcoholic liver diseases. An exploratory study was conducted in 136 participants, 66 abstinent patients with AUD seeking treatment for alcohol (alcohol group), and 70 healthy control subjects (control group). The alcohol group was divided according to the presence of comorbid liver diseases (i.e., fatty liver/steatosis, alcoholic steatohepatitis, or cirrhosis). All participants were clinically evaluated, and plasma concentrations of total LPA and ATX were measured using enzyme-linked immunosorbent assays. Data were primarily analyzed using analysis of covariance (ANCOVA) while controlling for age, body mass index, and sex. Logistic regression models were created to assess the association of the ATX–LPA axis and AUD or liver disease. LPA and ATX were log10-transformed to fit the assumptions of parametric testing.The main results were as follows: total LPA and ATX concentrations were dysregulated in the alcohol group, and patients with AUD had significantly lower LPA (F(1,131) = 10.677, p = 0.001) and higher ATX (F(1,131) = 8.327, p = 0.005) concentrations than control subjects; patients with AUD and liver disease had significantly higher ATX concentrations (post hoc test, p < 0.05) than patients with AUD but not liver disease; significant correlations between AUD-related variables and concentrations of LPA and ATX were only found in the non-liver disease subgroup (the duration of alcohol abstinence with LPA and ATX (r = +0.33, p < 0.05); and the severity of AUD with ATX (rho = −0.33, p < 0.05)); and a logistic regression model with LPA, ATX, and AUD-related variables showed an excellent discriminative power (area under the curve (AUC) = 0.915, p < 0.001) for distinguishing patients with AUD and comorbid liver disease. In conclusion, our data show that the ATX–LPA axis is dysregulated in AUD and suggest this lipid signaling, in combination with relevant AUD-related variables, as a reliable biomarker of alcoholic liver diseases.

Se conoce que la transmisión perinatal del VIH es prevenible con la toma de algunas medidas generales y otras específicas. La acción fundamental para lograr esta prevención es identificar temprano durante el embarazo, cuáles mujeres embarazadas están infectadas por VIH. Para conseguir este objetivo es necesario realizar la prueba del ELISA para VIH, a toda embarazada, en su primera consulta prenatal. Las guías para la prevención de la transmisión perinatal de VIH se desarrollaron con el fin de facilitar la aplicación de todas las acciones necesarias para prevenir la transmisión perinatal de VIH en Costa Rica, brindando una óptima atención médica a la madre y al recién nacido. Los elementos fundamentales de estas guías incluyen: tratamiento con 3 antirretrovirales a las mujeres embarazadas VIH+, a partir de la 12ava semana de gestación, uso intravenoso de Zidovudina en labor, vía de parto por cesárea, suspensión de la lactancia materna, y profilaxis con Zidovudina al recién nacido a partir de las 8 horas de edad. Las guías proveen también recomendaciones para proceder en situaciones especiales relacionadas con la embarazada VIH+ y su hijo.

El siguiente documento recolecta información actualizada para el abordaje de la persona con infección por el virus de inmunodeficiencia humano, adaptado a la realidad nacional. Se considera que la terapia antirretroviral debe iniciarse lo antes posible en personas con conteo linfocitario menor de 350 linfocitos T CD4+/mm³, previa valoración clínica y asegurando seguimiento estricto por parte de un equipo interdisciplinario. La carga viral será el parámetro que se utilizará para el seguimiento y, como meta, se proyecta alcanzar indetectabilidad a los 6 meses de tratamiento.Abstract: The following document is a guideline adapted to the national reality for the management of people living with HIV. Once a clinical assessment has been made, the antiretroviral therapy must be initiated as soon as possible in all the patients with a CD4+ count less than 350 cels/mm³. A strict follow-up by an interdisciplinary team must be guaranteed. The viral load will be the follow-up parameter. The aim is that it will be undetectable after 6 months of treatment.

El compromiso de la regulación de la inflamación produce activación excesiva y expansión de macrófagos y linfocitos T que desencadenan una reacción inflamatoria severa, sin vías naturales de control. Los trastornos hemofagocíticos son la traducción clínica de este proceso inflamatorio. La linfohistiocitosis hemofagocítica se refiere a todas las variantes de esta patología, y el síndrome de activación macrofágica, a la variante asociada con enfermedad autoinmune. Los casos primarios se asocian con la forma familiar autosómica recesiva y los secundarios con inmunodeficiencias primarias, infección, malignidad y enfermedades autoinmunes. El principal distintivo de este grupo de patologías es la proliferación agresiva de macrófagos e histiocitos que fagocitan otras células sanguíneas. La reducción en la actividad de las células NK produce un aumento en la activación y expansión de linfocitos T, los cuales producen grandes cantidades de citoquinas. Las citoquinas inducen activación de macrófagos y células dendríticas, infiltración tisular y producción de interleuquinas, lo que genera una reacción inflamatoria severa, responsable del daño tisular y de las manifestaciones clínicas. El curso clínico se caracteriza principalmente por fiebre prolongada, hepatoesplenomegalia y citopenias. Los estudios de laboratorio muestran aumento de ferritina, triglicéridos e hipofibrinogenemia. La hemofagocitosis en médula ósea está presente en más del 80% de los casos al diagnóstico. El tratamiento está dirigido contra el linfocito T y los histiocitos hiperactivados, combinando quimioterapia con inmunosupresores y, en algunos casos, trasplante de células madre hematopoyéticas. Este tratamiento ha producido un cambio en la sobrevida de los pacientes. El protocolo de tratamiento HLH-2004 es una guía que estandariza el tratamiento, combinando etopósido, dexametazona y ciclosporina A. En Costa Rica se han reportado 60 casos en población pediátrica, con una mortalidad promedio del 44%.

El síndrome con deleción 22q11 es una enfermedad autosómica recesiva causada por una microdeleción 22q11.2. En este artículo se reportan los tres primeros casos del síndrome confirmados por citogenética en Costa Rica. El estudio de fluorescencia con hibridización in situ que demostró la microdeleción 22q11.2, se indicó por la sospecha clínica del síndrome, en 2 niños y una niña con malformaciones congénitas conotruncales de corazón. Dos de los casos se encuentran vivos a la fecha cuando se escribió este reporte y uno falleció en el postoperatorio inmediato de la cirugía para corregir la cardiopatía. Al inicio de los síntomas, en los tres casos se documentó falla para progresar y en dos se anotó dismorfismo en referencia a rasgos faciales anormales. En un caso se reportó paladar hendido y en otro pie, bott. A pesar de que la malformación congénita de corazón es el hallazgo clínico que con frecuencia induce al médico a pensar en este síndrome, los trastornos cognitivos y del comportamiento son las manifestaciones fenotípicas más frecuentes.The 22q11 deletion syndrome is an autosomic recessive disease caused by a 22q11 microdeletion. We report the first 3 cases of this syndrome in Costa Rica, confirmed by cytogenetics, in situ fluorescence hybridization showed the 22q11 microdeletion. Due to clinical suspicion it was requested in 2 boys and one girl with congenital conotruncal heart disease. As of today, 2 of the cases are alive and 1 died in the immediate postoperative period of corrective cardiac surgery. When their symptoms began, in the 3 cases failure to thrive was noted and in 2, dimorphism related to abnormal facial features. In 1 case, cleft palate was recorded and, pie bott in another. Although congenital heart disease is a clinical finding that frequently persuades physicians into thinking about this syndrome, the most common phenotypical signs are cognitive and behavioral disorders.

Objetivo: La neutropenia es un motivo relativamente frecuente de referencia al Servicio de Inmunología y Reumatología Pediátrica del Hospital Nacional de Niños; el estudio pretende caracterizar los casos de neutropenia referidos a este Servicio en el periodo comprendido entre noviembre de 1988 y junio de 2008. Métodos: Se estudiaron 84 pacientes entre 0 y 12 años de edad, referidos entre el 6 de noviembre de 1988 y el 1 de junio de 2008. Se efectuó un análisis descriptivo global de las características presentadas por estos pacientes en términos de evolución clínica, patrón de infección, gérmenes más frecuentes causantes de infección, complicaciones y tratamiento. Resultados: El 52.2% de los pacientes analizados resolvieron su neutropenia espontáneamente, por lo que fueron catalogados como neutropenia transitoria; el 21.7% de los casos evolucionó como neutropenia cíclica; el 13% de los pacientes fueron catalogados como neutropenia crónica benigna; el 7.2% evolucionaron como neutropenia crónica grave sintomática; el 2.9% tuvieron neutropenia asociada a glucogenosis tipo 1B, y el 2.9% de los casos no fueron clasificables en las categorías propuestas. El 56.5% de los casos se asoció a un patrón de infección anormal, sea por incremento en la frecuencia, mayor gravedad, compromiso multisistémico o presencia de microorganismos oportunistas. El sistema más afectado por infección fue la vía respiratoria superior. El 39.1% de los casos de neutropenia evaluados ameritaron uso de antibióticos profilácticos, y el 11.6% de los casos requirieron usar factor estimulante de colonias granulocíticas, en algún momento de su evolución. Los gérmenes más frecuentemente involucrados en infección fueron Pseudomona aeruginosa, Staphylococcus spp y E. coli. Conclusión: La gran mayoría de los pacientes neutropénicos estudiados tiene un curso clínico benigno caracterizado por pocas hospitalizaciones y una intervención farmacológica relativamente simple. Las infecciones documentadas en los casos analizados suelen ser causadas por los mismos gérmenes descritos en otras series. El conteo absoluto de neutrófilos al diagnóstico no incide sobre la frecuencia de infección recurrente, pero el tipo o curso clínico de la neutropenia sí lo hace.Aim: Neutropenia is a relatively common cause of patient referral to the Immunology and Pediatric Rheumatology Department of the National Children’s Hospital. The present study characterizes the cases of neutropenia referred to this department between November 1988 and June 2008. Methods: Eighty four patients between 0 and 12 years of age, were referred from November 6th, 1988 and June 1st, 2008. We performed a comprehensive descriptive analysis of the characteristics exhibited by these patients in terms of clinical course, pattern of infection, most common causative germs, complications and treatment applied. Results: Neutropenia resolved spontaneously in 52.2% of the patients, and they were classified as transient neutropenia, 21.7% of the cases developed cyclic neutropenia, 13% of were categorized as benign chronic neutropenia, 7.2% developed severe chronic symptomatic neutropenia, 2.9% had neutropenia associated with type 1B glycogenosis and 2.9% of the cases were not classifiable in any of the proposed categories. More than 50% of the cases were associated with an abnormal pattern of infection in terms of frequency, severity, multiplicity of systems involved, or the presence of opportunistic microorganisms. The upper respiratory tract was the most commonly affected system with infection. Prophylactic antibiotics were used in 39.1% of the cases and granulocyte colony stimulating factor was required in 11.6% at some stage of the course. The most frequently involved pathogens in infection were Pseudomonas aeruginosa, Staphylococcus sp and E. coli. Conclusion: The vast majority of neutropenic patients had a benign clinical course. The same germs described in other series, caused infections in our patients. The absolute neutrophil count at diagnosis has no effect on the incidence of recurrent infection, but the type or clinical course of neutropenia does.

La ingeniería de la célula madre (CM) es una tecnología aplicable en la solución de problemas de salud del ser humano relacionados con la reconstrucción de tejidos y la restauración de la función celular normal en enfermedades metabólicas, hematológica, inmunológicas y degenerativas. La investigación en la biología de la CM ha permitido definirle una identidad y establecer un grupo de células de diferente origen que comparten las características de autorrenovación y plasticidad. Este grupo incluye células embrionarias, mesenquimatosas, hematopoyéticas, umbilicales y residentes en tejidos como las CM neuronales. La investigación sobre todo con células embrionarias y los procedimientos de clonación reproductiva y trasplante de núcleos han generado un debate ético, político y religioso, en el cual solamente podemos establecer nuestra opinión si conocemos los conceptos básicos de la biología e ingeniería de las células madre

La alergia al látex de hule natural se ha convertido en un problema importante de salud en los trabajadores de la salud y en pacientes con espina bífida e intervenciones quirúrgicas múltiples. Las medidas preventivas permiten reducir la incidencia y son la mejor estrategia para intervenir en este problema de salud pública. Con el objetivo de aumentar el conocimiento sobre el problema de alergia al látex discutimos los aspectos relacionados con historia, epidemiología, diagnóstico, prevención y tratamiento. Se definen los términos sensibilización y alergia y se describen los aspectos químicos del látex de hule natural y de sus proteínas. La definición de grupos de riesgo permite desarrollar una estrategia en las instituciones de salud que disminuye la exposición y como consecuencia las manifestaciones clínicas de los individuos sensibilizados.