Predictors of short-term mortality in HIV-infected patients admitted to intensive care unit / Fatores preditores de mortalidade de curto prazo em pacientes infectados com HIV admitidos em unidade de terapia intensiva

INTRODUCTIONn: Historically, complications of HIV infection have been related to admissions to the Intensive Care Unit (ICU). Despite therapeutic advances, the results of the analysis of prognostic factors in patients with HIV/AIDS have varied, including late diagnosis and failure to adhere to antiretroviral treatment. OBJECTIVE: To evaluate the predictors of short-term mortality in HIV-infected patients admitted to the ICU, as well as their sociodemographic and clinical characteristics. METHODS: A retrospective cohort study including patients admitted to the ICU of a teaching hospital from 2003 through 2012. Data were collected from medical records after the Institutional Review Board approval. RESULTS: 148 HIV-infected patients were identified and 131 were eligible. Among included patients, 42.75% were HIV new diagnoses and 5.34% had no information about the time of diagnosis. The main reasons for admission to the ICU were respiratory failure and sepsis while mortality was 70.23% between 2003 and 2012. Among the risk factors for mortality were low albumin, high APACHE, low CD4+ T lymphocyte count, and not using antiretroviral therapy. CONCLUSION: Despite the availability of diagnosis and treatment for HIV-infected individuals, the number of new cases of advanced Aids diagnosed in high-complexity services such as ICU is high, as well as the non-use of combination antiretroviral therapy. It is necessary to strengthen anti-HIV screening to detect and treat more cases in the early stages.

INTRODUÇÃO: Historicamente, as complicações da infecção pelo HIV estavam relacionadas às internações em Unidade de Terapia Intensiva (UTI). Apesar dos avanços terapêuticos, os fatores prognósticos em pacientes com HIV/AIDS têm variado, incluindo diagnóstico tardio e não adesão ao tratamento antirretroviral. OBJETIVO: Avaliar os fatores preditores de mortalidade a curto prazo em pacientes infectados pelo HIV internados em UTI, bem como suas características sociodemográficas e clínicas. MÉTODOS: Estudo de coorte retrospectivo incluindo pacientes internados na UTI de um hospital universitário entre 2003 a 2012. Os dados foram coletados dos prontuários médicos após a aprovação pelo Comitê de Ética em Pesquisa com Seres Humanos. RESULTADOS: 148 pacientes infectados pelo HIV foram identificados e 131 eram elegíveis. Entre os pacientes incluídos, 42,75% possuíam diagnósticos recente de HIV e 5,34% não possuíam informação sobre o momento do diagnóstico. Os principais motivos de admissão na UTI foram insuficiência respiratória e sepse, enquanto a mortalidade foi 70,23% entre 2003 e 2012. Entre os fatores de risco para mortalidade identificou-se albumina baixa, APACHE alto, baixa contagem de linfócitos T CD4+ e não uso de terapia antirretroviral. CONCLUSÃO: Apesar da disponibilidade de diagnóstico e tratamento para indivíduos infectados pelo HIV, é elevado o número de casos novos em estágio avançado de Aids diagnosticados em serviços de alta complexidade, como UTI, e o não uso de terapia antirretroviral combinada. É necessário fortalecer a triagem anti-HIV, bem como aumentar a repetição da testagem anti-HIV para detectar e tratar mais casos em estágios iniciais.

The role of CD4+ CD25+ Treg in the mechanism of autoimmune auditory neuropathy in SD rats / 中华耳鼻咽喉头颈外科杂志

Objective: To investigate the role of CD4+CD25+regulatory cell (CD4+CD25+Treg) in auditory neuropathy (AN) using a rat model of autoimmune auditory neuropathy. Methods: The SD rats were immunized with P0 protein emulsified in complete Freunds adjuvant for 8 weeks. The number of CD4+CD25+Treg in peripheral blood and cochlea and the expression of Foxp3 gene in cochlea were detected respectively 2, 4, 6 and 8 weeks after the immunization with P0 protein in rats. Then CD4+CD25+Treg were transferred intravenously to the AN rats at 2, 4, 6 and 8 weeks of the immunization, respectively. The change of auditory brainstem response (ABR) and distortion product otoacoustic emission (DPOAE) were detected, and the morphological changes in the inner ear were investigated. Results: The number of CD4+CD25+Treg in the peripheral blood of AN rats decreased gradually after 2, 4, 6 and 8 weeks of P0 protein immunization. The number of CD4+CD25+Treg in cochlea gradually increased with the prolongation of immunization time, but the expression of Foxp3 gene in cochlea gradually decreased over time. After intravenous transplantation of CD4+CD25+Treg in AN rats, the threshold of ABR response decreased, and DPOAE had no significant change. The number of spiral ganglion neurons in cochlea increased, and hair cells had no significant change under electron microscope. Conclusions: The decrease in the number and function of CD4+CD25+Treg reduces its inhibitory effect on autoimmune response and promotes the occurrence of autoimmune auditory neuropathy in AN rats. Adoptive transfer of CD4+CD25+Treg can reduce the autoimmune response and promote the recovery of autoimmune auditory neuropathy.

The hematologic profile of Filipino HIV-infected individuals and its association with CD4 counts

ABSTRACT Introduction: Hematologic abnormalities are common in HIV and involve all blood cell lineages. A study on cytopenias, as correlated with disease progression, can be valuable in resource-limited settings. This study aimed to determine the hematologic profile of HIV patients and its association with CD4 count and antiretroviral (ARV) treatment. Methods: This is a retrospective cohort study involving adult Filipino HIV patients with complete blood count (CBC) and CD4 count determinations prior to the initiation of ARV treatment and after ≥6 months of ARV treatment. Logistic regression was performed to determine the association between cytopenias and a CD4 count <200 cells/μL. Results: The study included 302 patients. Anemia was the most common cytopenia. Anemia and leukopenia were associated with an increased likelihood of having a CD4 count <200 cells/μL in ARV-naïve patients. In ARV-treated patients, leukopenia was associated with an increased probability of having a CD4 count <200 cells/μL. An increase in hemoglobin, white blood cell (WBC) and platelet counts was observed after ≥6 months of ARV treatment. Conclusion: Anemia and leukopenia can be used as markers of immune status in HIV-infected individuals and improvement in the CBC parameters can be used to assess response to ARV treatment. Routine monitoring of hematologic parameters is recommended.

Asociación del inmunofenotipo linfocitario de sangre periférica con la presencia de linfomas no Hodgkin / Association of peripheral blood lymphoid immunophenotype with presence of non-Hodgkin lymphomas

Introducción: Los cambios en el inmunofenotipo de los linfocitos en los pacientes con linfoma no Hodgkin están asociados con el pronóstico y las respuestas terapéuticas. Sin embargo, no se ha establecido sistemáticamente la asociación con la enfermedad y por tanto su contribución al diagnóstico. Objetivo: Evaluar la asociación del inmunofenotipo linfocitario en sangre periférica con la presencia del linfoma no Hodgkin. Métodos: Se analizaron 31 muestras de sangre periférica de pacientes con diagnóstico confirmado de linfoma no Hodgkin y de 68 individuos sanos como controles, durante el período de 2018 a 2020. Se empleó la citometría de flujo multiparamétrica para el inmunofenotipado. Se calculó el área bajo la curva y el índice de Youden para establecer puntos de corte en los porcentajes linfocitarios. La asociación de los cambios inmunofenotípicos con el linfoma no Hodgkin, se realizó mediante cálculos de Odd ratio. Resultados: El aumento de linfocitos TCD8+ y NKCD56opaco se asoció significativamente con la presencia de linfoma no Hodgkin (OR= 3,4 y 2,9; respectivamente). Por el contrario, la disminución de linfocitos TCD4+, T doble positivo, T doble negativo y NKCD56brillante también se asoció con la existencia de linfoma no Hodgkin (OR= 23,0; 10,7; 6,9 y 15,8; respectivamente). Además, la disminución del índice CD4/CD8 también fue asociada con la enfermedad. Conclusiones: Los cambios encontrados en los inmunofenotipos linfocitarios se asociaron de forma significativa con la presencia del linfoma no Hodgkin, lo cual representa una expresión sistémica de la enfermedad y sugiere su valor diagnóstico(AU)

Introduction: Lymphocyte immunophenotype changes in non-Hodgkin lymphoma patients are associated with prognosis and therapeutic responses. However, its association with the disease has not been systematically established. Therefor its contribution to the diagnosis process. Objective: To assess the association of lymphocyte immunophenotype in peripheral blood with the presence of non-Hodgkin lymphoma. Methods: 31 peripheral blood samples were analyzed from patients with a confirmed diagnosis of non-Hodgkin lymphoma and from 68 healthy individuals as controls, during the period 2018 to 2020. Multiparametric flow cytometry was used for immunophenotyping. The area under the curve and the Youden index were calculated to establish cut-off points in lymphocyte percentages. The association of immunophenotypic changes with non-Hodgkin's lymphoma was made using Odd ratio calculations. Results: The increase in TCD8+ and NKCD56dim lymphocytes from peripheral blood was significantly associated with the presence of non-Hodgkin lymphoma (OR= 3.4 and 2.9, respectively). Oppositely, the decrease in TCD4+, double positive T, double negative T and NKCD56bright lymphocytes was associated with the existence of non-Hodgkin lymphoma (OR= 23.0, 10.7, 6.9 and 15.8, respectively). Therefore, the decrease in the CD4/CD8 rate was also associated with the disease. Conclusion: The changes found in these lymphocytic immunophenotypes were significantly associated with the presence of non-Hodgkin lymphoma, which represents a systemic expression of the disease and suggests its diagnostic value(AU)

Imunologia da tuberculose: uma revisão narrativa da literatura / Tuberculosis immunology: a narrative literature review

A resposta imune desenvolvida pelo hospedeiro contra o Mycobacterium tuberculosis é considerada de natureza complexa e multifacetada. Esta interação bacilo-hospedeiro resulta, na maioria das vezes, em uma infecção latente assintomática, podendo ou não evoluir para a forma ativa da tuberculose (TB). O presente estudo objetivou atualizar e sumarizar o conhecimento científico acerca dos mecanismos imunológicos associados à infecção e sua progressão para a TB ativa. Trata-se de uma revisão narrativa, realizada a partir do levantamento bibliográfico de artigos científicos indexados nas bases de dados PubMed/MEDLINE e SciELO, nos últimos 20 anos. Nas últimas décadas, a caracterização de linfócitos Tγδ, MAIT, iNKT e outra células T CD1 restritas proporcionaram um maior entendimento do papel da imunidade inata na infecção pelo bacilo. A migração de linfócitos T CD4+ produtores de IFN-g, TNF-α e de outras moléculas solúveis, promove o recrutamento e formação do granuloma, estrutura que beneficia tanto o hospedeiro quanto o bacilo. Eventualmente, um desequilíbrio nesta complexa rede de interação, resulta em uma resposta inflamatória exacerbada que contribui para o desenvolvimento de um granuloma necrótico. Por fim, a exaustão da resposta imune local frente à contínua exposição ao bacilo, associada ao perfil anti-inflamatório dos linfócitos Th2 e linfócitos Treg, favorecem a inativação funcional e, consequentemente, o desenvolvimento da doença ativa. A resposta imunológica é crucial para o desenvolvimento da infecção por M. tuberculosis. Portanto, estudos que possibilitem uma maior compreensão sobre a interação bacilohospedeiro podem viabilizar o desenvolvimento de novos métodos diagnósticos, estratégias terapêuticas e, sobretudo, avanços no desenvolvimento de imunobiológicos.

The immune response developed by the host against Mycobacterium tuberculosis is considered a complex and multifaceted nature. This host-bacillus interaction, which in most cases results in an asymptomatic latent infection that may or may not evolve to the development of active pulmonary tuberculosis (TB). The present study aimed to update and summarize the current scientific knowledge regarding the immunological mechanisms associated with infection and the development of active disease. This is a narrative review, based on scientific articles indexed in the PubMed/ MEDLINE and SciELO databases over the last 20 years. In recent decades, the characterization of Tγδ lymphocytes, MAIT, iNKT and CD1-restricted T cells has provided a better understanding of the role of innate immunity in bacilli infection. The migration of T CD4+ lymphocytes that produce IFN-γ, TNF-α and other soluble molecules, promotes the recruitment and formation of the granuloma, a structure that benefits both the host and the bacillus. Eventually, an imbalance in this complex interaction network results in an exacerbated inflammatory response that contributes to the development of a necrotic granuloma. Finally, exhaustion of the local immune response due to continuous exposure to the bacillus, associated with the anti-inflammatory profile of Th2 lymphocytes and Treg lymphocytes, favor functional inactivation and, consequently, the development of active disease. The immune response is crucial for the development of M. tuberculosis infection. Therefore, studies that enable a greater understanding of the hostbacillus interaction may enable the development of new diagnostic methods, therapeutic strategies and, above all, advances in the development of immunobiologicals.

Newly implemented community CD4 service in Tshwaragano, Northern Cape province, South Africa, positively impacts result turn-around time

Background: The Northern Cape is South Africa's largest province with an HIV prevalence of 7.1% versus a 13.5% national prevalence. CD4 testing is provided at three of five National Health Laboratory Service district laboratories, each covering a 250 km precinct radius. Districts without a local service report prolonged CD4 turn-around times (TAT).Objective: This study documented the impact of a new CD4 laboratory in Tshwaragano in the remote John Taolo Gaetsewe district of the Northern Cape, South Africa.Methods: CD4 test volumes and TAT (total, pre-analytical, analytical, and post-analytical) data for the Northern Cape province were extracted for June 2018 to October 2019. The percentage of CD4 results within the stipulated 40-h TAT cut-off and the median and 75th percentiles of all TAT parameters were calculated. Pre-implementation, samples collected at Tshwaragano were referred to Kimberley or Upington, Northern Cape, South Africa.Results: Pre-implementation, 95.4% of samples at Tshwaragano were referred to Kimberley for CD4 testing (36.3% of Kimberley's test volumes). Only 7.5% of Tshwaragano's total samples were referred post-implementation. The Tshwaragano laboratory's CD4 median total TAT decreased from 24.7 h pre-implementation to 12 h post-implementation (p = 0.003), with >95.0% of results reported within 40 h. The Kimberley laboratory workload decreased by 29.0%, and testing time significantly decreased from 10 h to 4.3 h.Conclusion: The new Tshwaragano CD4 service significantly decreased local TAT. Upgrading existing community laboratories to include CD4 testing can alleviate provincial service load and improve local access, TAT and efficiency in the centralised reference laboratory

Actualités au cours de l'évolution de l'infection à VIH sida dans un centre de référence: à propos de 327 cas colligés dans le service de médecine interne du CHU de Bouake, Côte d'Ivoire / News during the evolution of HIV/AIDS infection in a reference center about 327 cases collected in the internal medicine department of the Bouake teaching hospital, Ivory Coast

Introduction : Les maladies opportunistes surviennent chez les personnes vivant avec le VIH (PvVIH) dans les situations de prise en charge tardive. En absence de traitements efficace, la multiplication du virus est inévitable et les personnes concernées sont confrontées à une baisse de leur immunité [1]. C'est dans cette situation que des infections opportunistes se déclarent. Objectif: contribuer à une meilleure connaissance des affections opportunistes liées au VIH Méthode : L'étude s'est déroulée dans le service de Médecine Interne du CHU de Bouaké du 1er janvier 2017 au 31 décembre 2020. C'était une étude rétrospective et transversale qui a concerné les dossiers de patients infectés par le VIH hospitalisés dans ledit service. Résultats : L'analyse a noté 327 cas de dossiers complets sur 3815. La prévalence hospitalière était de 8,5%. L'âge moyen était de 36,2 ans et le sex ratio de 0,83. 65,3% des patients n'ont découvert leur statut sérologique que pendant l'hospitalisation dont les motifs étaient dominés par l'altération de l'état général (36,8%) suivi du coma (19,2%). 84,5% des patients avaient le VIH1. Le taux moyen de CD4 était de 50,5% cellules/mm3 . Les affections opportunistes étaient dominées par la tuberculose (41,8% des cas) et la plus létale était la maladie de Kaposi digestif dans 100% des cas. Conclusion: les patients étaient hospitalisés au stade d'altération de l'état général et de coma d'où la forte létalité. La tuberculose était la principale affection opportuniste. Ces résultats montrent avec beaucoup d'intérêt l'importance de la sensibilisation de la population sur le VIH et la nécessité du dépistage précoce.

Introduction: Opportunistic diseases occur in people living with HIV (PvHIV) in situations of late treatment. In the absence of effective treatments, the multiplication of the virus is inevitable and the people concerned are confronted with a drop in their immune defenses [1, 2]. It is in this situation that opportunistic infections occur Objective: to contribute to a better understanding of opportunistic infections linked to HIV. Method: The study took place in the Internal Medicine department of the Bouake University Hospital from January 1, 2017 to December 31, 2020. It was a retrospective and cross-sectional study which concerned the files of patients infected with HIV hospitalized in the said department. Results: The analysis noted 327 cases of complete records out of 3815. The hospital prevalence of 8.5%. The mean age was 36 years and the sex ratio 0.83. 65.3% of patients only discovered their serological status during hospitalization, the reasons for which were dominated by deterioration in general condition (36%) followed by coma (19.2%). 84.5% of patients had HIV1. The average CD4 count was 50.5% cell/mm3. Opportunistic diseases were dominated by tuberculosis (38% of cases) and the most lethal was digestive Kaposi in 100% of cases. Conclusion: Most of our patients were without social security and did not know their HIV status. These patients were hospitalized at the stage of impaired general condition and coma, hence the high lethality observed. The main opportunistic infections were tuberculosis, cerebral toxoplasmosis and digestive mycoses. These results show with great interest the importance of sensitizing the general population on HIV AIDS and the need for early detection of these opportunistic diseases.

First report of expansion of CD4+/CD28 null T-helper lymphocytes in adult patients with idiopathic autoimmune hemolytic anemia

ABSTRACT CD28 null T helper (Th) cells are rare in healthy individuals, but they are increased in various inflammatory and immune-mediated diseases. In this study, we determined the size of the CD4+/CD28 null T lymphocyte compartment in the peripheral blood of 40 autoimmune hemolytic anemia (AIHA) patients (idiopathic and secondary) and 20 healthy control subjects, using tri-color flow cytometry. The frequency and absolute count of CD4+/CD28 null T helper (Th) cells was significantly higher in idiopathic AIHA patients, compared to healthy controls (p = 0.001 and 0.001, respectively) and to patients with secondary AIHA (p = 0.04 and 0.01, respectively). The percentage of CD4+/CD28 null Th cells was also negatively correlated to the hemoglobin (Hb) level (p = 0.03). These findings demonstrate, for the first time, the expansion of this phenotypically-defined population of T lymphocytes in patients with idiopathic AIHA and indicate that it likely plays an etiological role in the development of this disease. However, establishing the use of this marker for diagnosis or monitoring treatment of such patients needs further studies.

Potential targets for the hepatitis C virus-mediated autoimmune thyroiditis

2021.174934ABSTRACTIntroduction: The mechanisms by which hepatitis C virus (HCV) infection induces autoimmune thyroiditis (AIT) have been studied, and it was suggested that inflammatory cytokines during HCV infection would change the thy-roperoxidase (TPO) signaling cascade and thyroglobulin (Tg) determining autoimmune thyroid disease.Objective: To show the signaling pathway, of TPO and Tg, and their potential targets mediated HCV in individuals with hepatitis C.Methods: The mapping of the signaling pathway was based on a review study approach and performed using the automatic annotation server of the Kyoto and Genome Encyclopedia (KEGG). PathVisio is free software for analysis and design of open source routes, and was used for the graphic representation of the signaling pathway.Results: The contigs were extracted from the KEGG database and their mapped transcription represents the signa-ling pathway of the main biomolecules that triggers the AIT. The action of HCV, or its treatment can trigger AIT that is characterized by the presence of autoantibodies against TPO and Tg. In AIT, autoreactive CD4 + T lymphocytes recruit B cells and CD8 + T cells in the thyroid. The progression of the disease leads to the death of thyroid cells and hypothyroidism. Conclusion: HCV or its treatment activates several signaling pathways with thyroid cells damage resulting in AIT and secondary hypothyroidism to cellular apoptosis. (AU)

RESUMOIntrodução: Os mecanismos pelos quais a infecção com o vírus da hepatite C (HCV) induz à tireoidite autoimune (TAI) têm sido alvo de estudos. Tem sido sugerido que citocinas inflamatórias, como a elevação das interleucinas na inflamação causadas pelo HCV, alterariam a cascata de sinalização da tireoperoxidase (TPO) e tireoglobulina (Tg) determinando um quadro de doença autoimune da tireóide.Objetivo: Demonstrar a via de sinalização da TPO e da Tg e seus potenciais alvos para a TAI mediados pelo HCV em indivíduos com hepatite C.Método: O mapeamento da via de sinalização foi realizado usando o servidor de anotação automática da Enciclopé-dia Quioto de Genes e Genomas (KEGG). O PathVisio, um software gratuito de análise e desenho de vias de código aberto, foi utilizado para a representação gráfica da via de sinalização.Resultado: As sequências foram retiradas do banco de dados KEGG e sua transcrição mapeada representa a via de . sinalização das principais biomoléculas que desencadeia a TAI. A ação do HCV, ou seu tratamento pode desen-cadear a TAI que é caracterizada pela presença de autoanticorpos contra a TPO e Tg. Na TAI os linfócitos T CD4+ auto-reativos recrutam células B e células T CD8+ na tireóide. A progressão da doença leva à morte de células da tireóide e hipotireoidismo.Conclusão: O HCV ou o seu tratamento ativa várias vias de sinalização com dano na célula tireoidiana, tendo como resultado TAI e hipotireoidismo secundário a apoptose celular. (AU)

Manifestaciones oculares asociadas a CD4+ en pacientes con virus de inmunodeficiencia humana / Ocular manifestations associated to CD4+ in patients with human immunodeficiency virus

Introducción: desde los primeros casos de virus de inmunodeficiencia humana (VIH), se conocen manifestaciones oculares secundarias a la infección y estas se han relacionado con el conteo de linfocitos CD4+. Objetivo: describir la correlación entre las manifestaciones oculares en pacientes con VIH y el conteo de linfocitos CD4+. Material y métodos: estudio transversal analítico de pacientes con VIH, en quienes se analizó la correlación entre conteo de CD4+ y manifestaciones oftalmológicas. Resultados: se incluyeron 21 pacientes entre 26 y 67 años de edad. Solo tres no se encontraban en terapia antirretroviral. El 67% presentó algún tipo de manifestación ocular, 42% presentó manifestaciones no relacionadas con la infección, 47% manifestaciones relacionadas y 24% ambas. La microangiopatía de la conjuntiva fue la manifestación ocular más frecuente (35.7%). Hubo una correlación estadísticamente significativa (r = 0.76, p = 0.0001) entre las manifestaciones oculares relacionadas con la infección y el conteo de linfocitos CD4+. Conclusiones: los pacientes con VIH presentan con frecuencia manifestaciones oculares, la mayoría asociadas a la infección. Existe correlación entre la presencia de estas con el conteo de CD4+; sin embargo, un número similar de manifestaciones no asociadas a la infección se presentaron sin correlación con el conteo, por lo que los pacientes con VIH deberían tener revisiones oftalmológicas periódicas, independientemente del conteo de CD4+.

Background: Since the first cases of human immunodeficiency virus (HIV), ocular manifestations secondary to infection have been known and these have been related to the CD4+ lymphocyte count. Objective: To describe the correlation between ocular manifestations in patients with HIV and the CD4+ lymphocyte count. Material and methods: Analytical cross-sectional study of patients with HIV whose CD4+ count was correlated with the presence of ophthalmological manifestations. Results: 21 patients between 26 and 67 years were studied. Only 3 patients were not on antiretroviral therapy. 67% of the patients presented some type of ocular manifestation, 42% presented non-infection related manifestations, 47% related manifestations and 24% both. Conjunctival microangiopathy was the most frequent ocular manifestation (35.7%). There was a statistically significant correlation (r = 0.76, p = 0.0001) between eye manifestations related to infection and CD4+ lymphocyte count. Conclusions: Patients with HIV frequently present ocular manifestations, the majority related to infection; there is a correlation between the presence of these with the CD4+ count. However, a similar number of manifestations not related to infection occurred without correlation with the count; therefore, HIV patients should have periodic ophthalmological examinations, independently of CD4+ count.

Antigenemia temprana de Cryptococcus en pacientes asintomáticos VIH positivos en Barranquilla, Colombia / Cryptococcus early antigenemia in HIV positive asymptomatic patients in Barranquilla, Colombia

Resumen La criptococosis meníngea presenta alta mortalidad mundial, especialmente en población VIH/sida. La OMS recomienda detectar el antígeno capsular de Crypto coccus como estrategia para un diagnóstico temprano y poder minimizar complicaciones. Objetivo: realizar antigenemia temprana de Cryptococcus mediante in munocromatografía/ensayo de flujo lateral en pacientes asintomáticos VIH+. Material y método: estudio descriptivo observacional; entre julio-2016 y mayo-2019 se procesaron mediante ensayo de flujo lateral, muestras de suero de 169 pacientes asintomáticos VIH+, con CD4 ≤120 cel/μL en Barranquilla, Colombia. Ante resultado positivo, se indicó profilaxis con fluconazol; se hizo seguimiento a todos los casos. Resultados: la antigenemia fue positiva en cinco pacientes (2,96%); uno falleció, cuatro recibieron profilaxis y la prueba se negativizó en dos. Los pacientes con resultado negativo inicial no desarrollaron durante el estudio sinto matología compatible con esta micosis. Discusión: el ensayo de flujo lateral de Cryptococcus está recomendado para el diagnóstico temprano de la criptococosis en población VIH/sida. Conclusión: detectar tempranamente el antígeno circulante de Cryptococcus mediante ensayo de flujo lateral en pacientes asintomáticos VIH+, permitió instaurar profilaxis oportuna, hacer seguimiento y control para reducir la mortalidad asociada con la criptococosis meníngea.

Abstract Meningeal cryptococcosis presents high levels of global mortality, especially in the HIV/AIDS population. The WHO recommends detecting the capsular antigen as an important strategy for early diagnosis and be able to minimize complications. Objective: Perform early cryptococcal antigenemia by immunochromatographic/ lateral flow assay in asymptomatic HIV+ patients. Material and method: descriptive observational study; between July-2016 and May-2019, serum samples from 169 asymptomatic HIV+ patients with CD4 ≤120 cells/μL were processed by lateral flow assay in Barranquilla, Colombia. Given a positive result, prophylaxis with fluconazole was indicated; all cases were followed up. Results: antigenemia was positive in five (2.96%) patients; one died; four received prophylaxis, and the test turned negative in two. The patients with an initial negative result, did not developed symptoms compatible with this mycosis during the study period. Discussion: lateral flow assay for Cryptococcus is recommended for the early diagnosis of cryptococcosis in the HIV/AIDS population. Conclusion: early detection of circulating Cryptococcus antigen by lateral flow assay in HIV+ patients allowed the establishment of timely prophylaxis, follow-up, and control to reduce mortality associated with meningeal cryptococcosis.

Personas con VIH en hospitales públicos de CABA: antirretrovirales y respuestas al tratamiento. Aún lejos de los objetivos de la OMS / People with HIV in Public Hospitals of CABA: Antiretrovirals and treatment responses. Still far from WHO ́s goals

Introducción: Se estima que en Argentina son 129 mil las personas que poseen el virus de inmunodeficiencia humana, aunque un 20% de ellas lo desconoce. El 20% de 5800 nuevos casos por año en el país corresponden a CABA. No hay datos sobre la situación de pacientes que se atienden en hospitales públicos de CABA con respecto a objetivos de la OMS. Objetivo: Analizar esquemas antirretrovirales y situación virológica e inmunológica de las personas con VIH (PcVIH) en TAR que se asisten hospitales públicos de CABA. Métodos: Estudio descriptivo y retrospectivo, bajo muestreo por conveniencia. Análisis de datos obtenidos del Sistema de Administración de Pacientes VIH (SVIH), activos a junio de 2018. Es dable aclarar que la primera parte se refiere a la fuente de información, y que sean activos a junio de 2018 se refiere a criterio de inclusión y periodo de análisis respectivamente. Variables analizadas: sexo, edad, distribución de TAR, CV y CD4 utilizando el programa SPSS 20. Resultados: 6878 PcVIH en TAR, 66,6% hombres. 79% con al menos 1 CV. De ellas, con CV indetectables (<40 copias) 62% (78% del total de PcVIH con CV). Datos de CD4 en 56% PcVIH: 65% con >500. En primera línea de TAR 88,3%: 42% IP potenciados, 45% INNTI, 13% INSTI. De CV indetectables (<40 copias), 92% en primera línea de TAR (significativo) y de las detectables, 80%. INNTI como tercera droga, significativo para CV indetectable (<40 copias). 45% de PcVIH en TAR sin CV y/o CD4. Discusión: La muestra representa la mitad de las PcV1 de CABA atendidas en el sistema público. Más de la mitad de la población estudiada se encuentra indetectable (<40 copias). INNTI siguen siendo las terceras drogas más utilizadas. Alto % de PcVIH en TAR sin CV y/o CD4. Insuficientes laboratorios (CV y CD4), baja disponibilidad de datos y lejanía del objetivo de OMS indican deficiencias del sistema de salud. Mejoras en acceso a TAR, a determinaciones de laboratorio, y en la calidad de los datos son necesarios.

Introduction: HIV infection is significant in Buenos Aires City. 20% of 5800 new cases/year in the country are from this region. There ́s no data about PLwHIV treated in public hospitals of Buenos Aires City about WHO objectivesObjetives: To know and analyze the situation PLwHIV treated in p ublic hospitals of Buenos Aires City about treatment, and virological and immunological responses.Methods: Descriptive and retrospective study. Data obtained from the Administration System of HIV Patients actives in June 2018. Variables analyzed: gender, age, ART distribution, VL and CD4 counts, with SPSS 20 ProgramResults: 6878 PLwHIV on ART, 66,6% male. 79% with at least 1 VL. Of them, 62% with undetectable VL (78% of all PLwHIV with VL). CD4 data in 56% PLwHIV: 65% >500: In 1st line of TAR 88,3%: 42% boosted IPs, 45% NNRTIs, 13% INIs. Of PLwHIV with undetectable VL, 92% in 1st line of ART (significant). NNRTIs significant for undetectable VL.Discussion:Our cohort represents 50% de los PLwHIV of Buenos Aires City. 62% currently with undetectable VL. NNRTIs still the more used 3rd antiretroviral. High % of PLwHIV on ART without VL and/or CD4 count. Not enough laboratory determinations (VLs and CD4 counts), low data ava ilability and remoteness of WHO ́s goals for 2020, show health system ́s weakness. Improvements in Access to ART and laboratory determinations and in the data availability andquality are necessary.

Relationship of Smoking with the CD4+ T cell count and Viral Load in Patients with the Human Immunodeficiency Virus in the HIV health care center at the Hospital Regional Universitario José María Cabral y Báez in the Dominican Republic: a Cross-sectional Descriptive Study / Relación entre tabaquismo, conteo de CD4+ y carga viral en pacientes con infección por Virus de Inmunodeficiencia Humana en el centro de atención para VIH del Hospital Regional Universitario José María Cabral y Báez de Republica Dominicana: estudio descriptivo transversal

Abstract Objective: To evaluate the relationship between tobacco use and viral load and CD4+ T cell count in HIV patients. Results: The research conducted was a descriptive study of 317 patients on highly active antiretroviral therapy (HAART), 18 years old and above, who attended the "Unidad de Atención Integral" (UAI) at the Hospital Regional Universitario José María Cabral y Báez, in Santiago, Dominican Republic. Of those 317 patients, 172 were included in the data analysis. It was found that a 77.3% of smokers had a CD4+ T cell count equal to or below 250 cells/mm3. 75% of smokers had a viral load equal to or greater than 400 copies/ml. In addition, 82.9% of nonsmokers presented with a viral load below 400 copies/ml. The smokers were more likely to have a viral load equal to or greater than 400 copies/ml (OR = 6.285, P < 0.001), in comparison with nonsmokers. Patients younger than 45 years old were more likely to have a viral load equal to or above 400 copies/ml compared to older patients (OR = 3.313, P = 0.024).

Resumen Objetivo: Evaluar la relación entre el consumo de tabaco, la carga viral y el recuento de linfocitos T CD4+ en pacientes con VIH. Resultados: La investigación fue realizada mediante un estudio descriptivo a 317 pacientes en terapia antirretroviral de alta actividad (TARGA), de 18 años o ma yores, que asistían a la Unidad de Atención Integral (UAI) del Hospital Regional Universitario José María Cabral y Báez, en Santiago, República Dominicana. De esos 317 pacientes, 172 se incluyeron en el análisis de datos. Se encontró que un 77,3% de los fumadores tenían un recuento de células T CD4 + igual o inferior a 250 células / mm3. El 75% de los fumadores tenían una carga viral igual o superior a 400 copias / ml. Además, el 82,9% de los no fumadores presentaba una carga viral inferior a 400 copias / ml. Los fumadores tenían más probabilidades de tener una carga viral igual o superior a 400 copias / ml (OR = 6.285, P <0.001), en comparación con los no fumadores. Los pacientes menores de 45 años tenían más probabilidades de tener una carga viral igual o superior a 400 copias / ml en comparación con los pacientes mayores (OR = 3,313, P = 0,024).

Resonant Recognition Model Study for Interactions between SARS CoV 2 and Human Proteins

This study was devoted to the Resonant Recognition Model (RRM) analysis of SARS-CoV-2 proteins and their possible interaction with other human proteins, specifically, SARS CoV replicases and methyl transferases, were tested, via RRM analysis, for possible interactions with host CD4 T receptor proteins and prohibitins which participate in human organism response to viral infections. The following protein sequences were studied: twenty human SARS coronavirus methyltransferase proteins, eight replicase proteins, twenty-one prohibitin proteins, and eleven CD4 -T-cell surface antigens T4 proteins. Results revealed RRM peaks at f1=0.07349 and f2=0.2839. The peak at f1 was also common for interaction between SARS-CoV-2 methyl transferases and human prohibitins, where opposite phase suggest binding between these proteins during viral infection. This interaction was not supported for viral methyltransferase and human CD4 receptors (72.4 o phase shift). Viral replicases exhibited opposite phase interaction with both prohibitins and CD4 receptors. Overall, RRM revealed common RRM frequencies for both replicases and methyl transferases, and added plausibility to interactions between SARSCoV2 methyl transferase and human prohibitin, as well as between SARS Cov2 replicase and human prohibitin and CD4 T-cell receptors(AU)

Este estudio se dedicó al análisis mediante el Modelo de Reconocimiento Resonante (RRM) de las proteínas del SARS-CoV-2 y su posible interacción con otras proteínas humanas, específicamente, fueron analizadas las replicasas de SARS CoV y las metiltransferasas, mediante análisis RRM, para detectar posibles interacciones con las Proteínas del receptor CD4 T y las prohibitinas humanas, las cuales participan en la respuesta del organismo humano a las infecciones virales. Se estudiaron las siguientes secuencias de proteínas: veinte proteínas metiltransferasas del coronavirus del SARS humano, ocho replicasas, veintiuna prohibitinas y once proteínas T4 de antígenos de superficie de células T CD4. Los resultados revelaron picos de RRM en f1 = 0.07349 y f2 = 0.2839. El pico en f1 también fue común para la interacción entre las metiltransferasas del SARS-CoV-2 y las prohibitinas humanas, donde la fase opuesta sugiere la unión entre estas proteínas durante la infección viral. Esta interacción no fue apoyada para la metiltransferasa viral y los receptores CD4 humanos (cambio de fase de 72,4 o). Las réplicas virales exhibieron una interacción de fase opuesta tanto con las prohibitinas como con los receptores CD4. En general, el análisis de RRM reveló frecuencias comunes de RRM para replicasas y metiltransferasas, y apoyó plausibilidad de las interacciones entre la metiltransferasa de SARSCoV2 y la prohibitina humana, así como entre la replicasa de Cov2 del SARS con la prohibitina humana y los receptores de células T CD4(AU)

Características clínico-epidemiológicas de mujeres con Virus de Inmunodeficiencia Humana. Boyeros. 1986-2016 / Clinical and epidemiological characteristics of women with Human Immunodeficiency Virus. Boyeros. 1986-2016

Introducción: En los últimos años las mujeres constituyen uno de los grupos más vulnerables y afectados por el VIH. Objetivo: Determinar características clínico-epidemiológicas de mujeres con VIH, residentes en el municipio Boyeros. Material y métodos: investigación descriptiva, retrospectiva de pacientes femeninas con VIH, diagnosticadas y residentes en el municipio Boyeros, desde 1986 hasta el 31 de diciembre del 2016. Se incluyeron solo las pacientes mayores de 14 años, vivas, diagnosticadas y residentes en el municipio. La muestra estuvo constituida por 99 casos. La fuente de información se obtuvo de las historias clínicas de la Consulta Municipal especializada para la atención a pacientes con VIH/sida del municipio Boyeros. Resultados: Las tasas de incidencia muestran tendencia ascendente. El 49,5 por ciento se diagnostican con edades entre 15 y 29 años. Predominan las mujeres blancas en 40 por ciento, con nivel de escolaridad secundaria básica (43 por ciento). Un 19 por ciento se hizo el diagnostico como gestante y más de 50 por ciento no declararon vínculo laboral estable. El diagnóstico tardío se presentó en 43 por ciento y a edades mayores. El último conteo de T-CD4 fue mayor de 350 células/mm3 en más de 50 por ciento. El 92,9 por ciento de los casos tienen indicado TARV. Conclusiones: La población femenina con VIH del municipio Boyeros es predominantemente joven, con nivel de escolaridad básica y sin vínculo laboral. Se mantienen casos de diagnóstico tardío y las cifras de T-CD4 muestran valores adecuados en la mayoría de los casos(AU)

Introduction: Women are one of the most vulnerable groups affected by HIV during the last years. Objective: To determine the clinical and epidemiological characteristics of women with HIV in Boyeros municipality. Material and Methods: A descriptive retrospective research was conducted in female HIV patients in Boyeros municipality from 1986 to December 31, 2016. Only alive women older than 14 years living in the aforementioned municipality who were previously diagnosed with HIV were included in the study. The sample was composed of 99 cases. The information was obtained from the clinical records of the Municipal Consultation where specialized care is given to patients with HIV/AIDS. Results: The incidence rates of HIV infection in women showed a rising trend. Also, 49,5 percent of women infected with HIV were between 15 and 29 years of age. There was a prevalence of whites (40 percent) as well as women with secondary levels of education (43 percent). The diagnosis was also made in pregnant women, representing the 19 percent. More than 50 percent of them declared not to have steady jobs. Late diagnosis was identified in 43 percent of women in older ages. The latest T-CD4 count was higher than 350 cells/mm3 in more than 50 percent of them. ART was indicated in 92,9 percent of the cases. Conclusions: The female population infected with HIV in Boyeros municipality is mainly young; a lot of them have basic educational levels and do not have an employment contract. Late diagnosis of HIV infection continues to be identified. T-CD4 cell counts show adequate values in most of the cases(AU)

Especificidad de pruebas rápidas y confirmatorias de vih/sida de pacientes femeninas en edades reproductivas del hospital general esmeraldas sur / Specificity of rapid and confirmatory hiv / aids tests of female patients in reproductive ages of the General Hospital Esmeraldas Sur

EL Virus de Inmunodeficiencia Humana, constituye un grave problema de salud a nivel mundial. El VIH, es una patología que ataca las células CD4 del sistema inmunitario, ocasionando un desperfecto en el sistema inmune, lo cual hace más fácil la llegada de infecciones o enfermedades oportunistas. Objetivo: Conocer la especificidad de las pruebas rápidas y pruebas confirmatorias de pacientes con VIH en edades reproductivas del Hospital General Esmeraldas Sur, en el área de laboratorio clínico. Metodología: Es un estudio Cuantitativo, de corte longitudinal retrospectivo, con alcance descriptivo, que permitió ordenar, interpretar y tabular los resultados de las pruebas rápidas y pruebas confirmatorias de VIH/sida de pacientes femeninas en edades reproductivas. Evidenciándose la falta de información en el registro de pacientes con VIH/sida del HGES, de los datos estadísticos, en 49 pacientes femeninas registras en el HGES. Resultados: El estudio indica que existe un predominio de pacientes con VIH/sida 30 casos corresponde a pacientes al grupo etario ≤ 30 años, seguido por 12 casos que corresponde a pacientes del grupo etario ≤ 40 años, mientras que los pacientes del grupo etario ≤ 45 representan un 8% (4 casos) y el 6% (3 casos) corresponde a pacientes ≤ 20. El 61% corresponde a ≤ 30 años, en segundo lugar, con el 25% las ≤ 40 años. Conclusiones: Los registros observados en el HGES, durante el proceso de investigación, no fueron suficientes para alcanzar el objetivo propuesto, para tal efecto es necesario disponer de los registros completos de los pacientes con VIH/sida en todas las pruebas, según en algoritmo de la OMS. Además, de brindar confianza a la ciudadanía con resultados de calidad, se debe utilizar recursos tecnológicos y demás instrumentos que permitan al profesional de salud, dar un diagnóstico correcto y oportuno. Todo enmarcado en la ética principal, la conservación de la vida(AU)

The Human Immunodeficiency Virus constitutes a serious health problem worldwide. HIV is a pathology that attacks the CD4 cells of the immune system, causing damage to the immune system, which makes it easier for infections or opportunistic diseases to arrive. Objective: To know the specificity of the rapid tests and confirmatory tests of patients with HIV in reproductive ages of the General Hospital Esmeraldas Sur, in the clinical laboratory area. Methodology: It is a quantitative study, retrospective longitudinal section, with descriptive scope, which allowed ordering, interpreting and tabulating the results of rapid tests and confirmatory tests of HIV / AIDS of female patients of reproductive ages. Evidence of the lack of information in the registry of patients with HIV / AIDS of the HGES, of the statistical data, in 49 female patients registered in the HGES. Results: The study indicates that there is a predominance of patients with HIV / AIDS. 30 cases correspond to patients in the age group ≤ 30 years, followed by 12 cases corresponding to patients in the age group ≤ 40 years, while patients in the age group ≤ 45 represent 8% (4 cases) and 6% (3 cases) correspond to patients ≤ 20. 61% correspond to ≤ 30 years, secondly, with 25% those ≤ 40 years. Conclusions: The records observed in the HGES, during the research process, were not sufficient to achieve the proposed objective, for this purpose, it is necessary to have complete records of patients with HIV / AIDS in all tests, according to the algorithm of The OMS. In addition, to provide confidence to the public with quality results, technological resources and other instruments must be use that allow the health professional to give a correct and timely diagnosis. All framed in the main ethic, the conservation of life(AU)

Características sociodemográficas y clínicas, según el índice CD4: CD8, de una población de personas infectadas con el VIH que consultó en la Corporación para Investigaciones Biológicas de Medellín, Colombia / Sociodemographic and clinical characteristics based on their cd4: cd8 ratio. of HIV infected persons who consulted at Corporación para Investigaciones Biológicas of Medellín, Colombia

RESUMEN Objetivo: las personas infectadas con el virus de la inmunodeficiencia humana tipo 1 (VIH-1+) con un índice CD4:CD8 menor a 1, presentan un mayor riesgo de morbilidad y mor-talidad por eventos no asociados con el SIDA. El objetivo de este trabajo fue explorar‚ en la población seleccionada‚ variables sociodemográficas y clínicas de acuerdo con dicho índice, debido a que este es más informativo que LT CD4+ y LT CD8+ por sí solos. Materiales y métodos: estudio observacional en pacientes con VIH-1+ atendidos en la Corporación para Investigaciones Biológicas (CIB). En 227 pacientes se evaluaron diferencias en edad‚ recuento de LT CD4+‚ carga viral‚ número y tipo de esquemas. Se dividieron los pacientes en dos grupos: (A con índice CD4:CD8 ≥ 1 y, B < 1). Resultados: el estudio se compuso de la siguiente forma, 71 % hombres y 29 % mujeres. El 22,5 % pertenecía al grupo A y el 77,5 % al B. La media de la edad fue 42‚8 años en el grupo A y 45 en el B (p = 0‚176). El 100 % de los individuos en el grupo A recibían tratamiento y, 97‚7 % en el B. La media de LT CD4+ fue de 772‚4 para el grupo A y, 448‚1 en el B (p = 0‚00001). En el grupo A el 90‚2 % tenían carga viral indetectable‚ en contraste con el 68‚8 % del B (p = 0‚002). El 41‚2 % en el grupo A tuvieron un solo esquema‚ en relación con el 43,8 % del B (p = 0‚744). Conclusiones: la mayoría de los pacientes presentaron un índice CD4:CD8 < 1 a pesar de haber presentado LT CD4+ aceptables. Fue más frecuente encontrar un índice < 1 en los pacientes sin un adecuado control virológico. Se requieren más estudios para determinar las variables asociadas con su normalización.

SUMMARY Introduction: Human Immunodeficiency Virus type 1 (HIV-1+) patients with a CD4:CD8 ratio < 1 presents a higher risk of morbidity and mortality due to not-associated AIDS events. The aim was to explore, in the selected population, sociodemographic and clinical variables, based on that ratio, because it is more informative than LT CD4+ and LT CD8+ by themselves. Materials and Methods: Observational, in HIV-1 infected patients attended at Biological Research Corporation. In 227 patients, age differences, LT CD4+ count, viral load, number and type of treatments were evaluated. The patients were divided in group A with a CD4:CD8 ratio equal or above to 1, and B bellow 1. Results: The study includes 71% of male and 29% of female. 22,5% were from group A and 77,5% from B. The mean of age was 42,8 years old in A and 45,3 years old in B (p=0,176). 100% of individuals from group A receive treatment, meanwhile 97,7% in B. Mean of LT CD4+ count was 772,4 cell/μL in A and 448,1 cell/μL in B (p=0,00001). In A, 90,2% had undetectable viral load vs 68,8% in B (p=0,002). 41,2% in A had only one type of treatment, vs 43,8% in B (p=0,744). Conclusion: Most of the patients had a CD4:CD8 ratio bellow to 1, despite an acceptable count of LTCD4++. To find a ratio bellow 1 in patients without an adequate virological control was more frequent. More studies to determinate variables associated with its normalization are required.

[T1 ESP]Pneumocystis jirovecii y SARS-CoV-2; COVID-19 / [T1 ENG]Pneumocystis jirovecii and SARS-CoV-2; COVID-19

Resumen Pneumocystis jirovecii, es un agente fúngico oportunista causante de neumonía (pneumocistosis) que puede ser mortal en personas con condición de inmunocompromiso, incluyendo pacientes VIH con recuento de linfocitos T CD4+ < 200 céls/mm3 y en pacientes inmunocomprometidos por otras etiologías como trasplantes de órgano sólido y cáncer, entre otras. Muchas personas pueden ser portadoras sanas de este agente etiológico y actuar como reservorio y fuente de infección. Artículos relacionados con coinfección entre SARS-CoV-2 y los de carácter oportunistas como P. jirovecii y Aspergillus fumigatus empiezan a publicarse, donde se argumenta que esta infección viral tiene un alto riesgo de coinfección y se manifiesta la importancia de no excluir los patógenos respiratorios, como P. jirovecii, entre otros. La coinfección con P. jirovecii puede no ser detectada en pacientes con infección grave por SARS-CoV-2, dado que pueden compartir características clínicas comunes como infiltrados multifocales bilaterales e hipoxemia profunda entre otras. Por lo tanto, es necesario realizar pruebas diagnósticas adicionales para P. jirovecii en pacientes con infección por SARS-CoV-2, especialmente cuando se presenten otras características clínicas que pueden apoyar la coinfección, como hallazgos quísticos en la TC torácica y niveles elevados en sangre de 1,3-D-glucano, incluso en ausencia de factores de riesgo clásicos para P. jirovecii, para el diagnóstico de neumonía por Pneumocystis en pacientes con sospecha de infección por SARS-CoV-2.

Abstract Pneumocystis jirovecii, is an opportunistic fungal agent that causes pneumonia (pneumocistosis) that can be fatal in people with immunocomprome status, including HIV patients with CD4+ T lymphocyte count < 200 cels/mm3 and in patients immunocompromised by other aetiologies such as solid organ transplants and cancer, among others. Many people may be healthy carriers of this etiological agent and act as a reservoir and source of infection. Articles related to co-infection between SARS-CoV-2 and opportunistic articles such as P. jirovecii and Aspergillus fumigatus begin publication, where it is argued that this viral infection has a high risk of co-infection, expressing the importance of not excluding respiratory pathogens, such as P. jirovecii, among others. Co-infection with P. jirovecii, may not be detected in patients with severe SARS-CoV-2 infection as they may share common clinical characteristics such as bilateral multifocal infiltrates and deep hypoxemia among others. Therefore, additional diagnostic tests for P. jirovecii, are necessary in patients with SARS-CoV-2 infection, especially when other clinical characteristics that may support co-infection are present such as cystic findings in thoracic CT and elevated blood levels of 1.3-D-glucan, including in the absence of classic risk factors for P. jirovecii, for the diagnosis of Pneumocystis pneumonia in patients with suspected SARS-CoV-2 infection.

Nova mutação no gene STAT1 associada com candidíase mucocutânea crônica / New STAT1 gene mutation associated with chronic mucocutaneous candidiasis

Mutações no gene STAT1 (signal transducer and activator of transcription 1) têm sido identificadas como responsáveis pela maioria dos casos sindrômicos da candidíase mucocutânea crônica com herança autossômica dominante (AD). Nesse artigo, descrevemos uma menina de 7 anos que apresentou candidíase da mucosa oral e unhas, além de infecção disseminada da pele e couro cabeludo por Microspora gipseum. Recentemente, a paciente foi diagnosticada e tratada de meningite por Cryptococcus neoformans. Na família não existem outros casos de candidíase. A avaliação imunológica incluiu a detecção de subpopulações de linfócitos (CD3, CD4, CD8, CD20 e células NK), assim como a dosagem de IgG, IgA, IgM e IgE, subclasses de IgG e autoanticorpos. Excluindo-se discreta diminuição de CD3, CD4, CD8, NK e leve aumento de IgG1, os demais exames estiveram dentro da normalidade. O sequenciamento do exoma detectou uma rara mutação em heterozigose no exon 14 do domínio de ligação do DNA (DNA-binding domain) do gene STAT1, ocasionando um provável ganho de função (GOF) responsável pela doença (Gly384Asp). Essa variação foi também identificada pelo sequenciamento de Sanger, não estando reportada nos bancos de dados públicos e apresentando elevado potencial de dano (índice CADD=32). Será interessante contarmos com informações clínicas e estudos com outros pacientes para conhecermos mais essa mutação patológica. Além da apresentação do caso, discutiremos as formas de tratamento existentes.

STAT1 (signal transducer and activator of transcription 1) gene mutations have been identified as responsible for most syndromic cases of chronic mucocutaneous candidiasis with autosomal dominant (AD) inheritance. In this article, we described a 7-year-old girl who presented with candidiasis of the oral mucosa and nails, as well as disseminated infection of the skin and scalp caused by Microsporum gypseum. Recently, the patient was diagnosed and treated for Cryptococcus neoformans meningitis. There are no other cases of candidiasis in the family. The immunological evaluation consisted of detection of subpopulations of lymphocytes (CD3, CD4, CD8, CD20, and NK cells), as well as measurement of IgG, IgA, IgM, and IgE, IgG subclasses, and autoantibodies. Excluding a slight decrease in CD3, CD4, CD8, NK and a minimal increase in IgG1, the others were within normal limits. Exome sequencing detected a rare heterozygous variation in exon 14 of the DNA-binding domain of the STAT1 gene, causing a probable gain of function (GOF) responsible for the disease (Gly384Asp). This variation was also identified by Sanger sequencing, but it was not reported in public databases and had a high potential for damage (Combined Annotation-Dependent Depletion [CADD] score = 32). Having clinical information and conducting studies of other patients will be helpful to learn more about this pathological mutation. In addition to the presentation of the case, we will discuss the existing forms of treatment.

Lípidos anormales e inmunidad adquirida Síndrome de Deficiencia: Asociación de Suero Lípidos con estatus de VIH / Abnormal Lipids and Acquired Immune Deficiency Syndrome: Association of Serum Lipids with HIV Status

Context and Aim: Hematological abnormalities are amongst the most common complications of infection with HIV.There have been quite a few studies on the alterations in lipid profile, too, though the results have largely been inconclusive. The present study was carried-out to assess CD4 cell counts and lipid profile in the HIV infected and AIDS patients in the Indian population and correlates them with the sero-negative controls. Materials and Methods: The present study was designed as a cross-sectional, hospital-based study to assess CD4 cell counts and lipid profile in the HIV infected and AIDS patients in the Indian population and correlates them with the sero-negative controls. Evaluation of lipid profile was done using Erba EM 360, an automated analyzer powered by a diffraction grating photometer while CD4 cell counts were evaluated using Partec Cyflow Counter. Statistical analysis used: The data was analyzed using SPSS version 15.0 (SPSS Inc., Chicago, IL, USA). Comparison of the said parameters was done using Analysis of Variance (ANOVA) and posthoc Games-Howell test. p-value of <0.05 was considered statistically significant. Results: The levels of total cholesterol and low-density lipoproteins (LDLs) were significantly decreased while triglycerides and very low density lipoproteins (VLDLs) were significantly increased in the HIV infected and AIDS patients when compared with the sero-negative controls. Conclusion: Total cholesterol, LDLs, triglycerides and VLDLs were significantly altered in the HIV infected and AIDS patients when compared with the sero-negative controls.