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1.
Int J Mol Sci ; 22(1)2020 Dec 22.
Artigo em Inglês | MEDLINE | ID: mdl-33375194

RESUMO

Infectious diseases represent a relevant issue in lung cancer patients. Bacterial and viral infections might influence the patients' prognosis, both directly affecting the immune system and indirectly impairing the outcome of anticancer treatments, mainly immunotherapy. In this analysis, we aimed to review the current evidence in order to clarify the complex correlation between infections and lung cancer. In detail, we mainly explored the potential impact on immunotherapy outcome/safety of (1) bacterial infections, with a detailed focus on antibiotics; and (2) viral infections, discriminating among (a) human immune-deficiency virus (HIV), (b) hepatitis B/C virus (HBV-HCV), and (c) Sars-Cov-2. A series of studies suggested the prognostic impact of antibiotic therapy administration, timing, and exposure ratio in patients treated with immune checkpoint inhibitors, probably through an antibiotic-related microbiota dysbiosis. Although cancer patients with HIV, HBV, and HCV were usually excluded from clinical trials evaluating immunotherapy, some retrospective and prospective trials performed in these patient subgroups reported similar results compared to those described in not-infected patients, with a favorable safety profile. Moreover, patients with thoracic cancers are particularly at risk of COVID-19 severe outcomes and mortality. Few reports speculated about the prognostic implications of anticancer therapy, including immunotherapy, in lung cancer patients with concomitant Sars-Cov-2 infection, showing, to date, inconsistent results. The correlation between infectious diseases and immunotherapy remains to be further explored and clarified in the context of dedicated trials. In clinical practice, the accurate and prompt multidisciplinary management of lung cancer patients with infections should be encouraged in order to select the best treatment options for these patients, avoiding unexpected toxicities, while maintaining the anticancer effect.


Assuntos
Infecções Bacterianas/complicações , Carcinoma Pulmonar de Células não Pequenas/complicações , Carcinoma Pulmonar de Células não Pequenas/terapia , Imunoterapia , Neoplasias Pulmonares/complicações , Neoplasias Pulmonares/terapia , Viroses/complicações , Síndrome de Imunodeficiência Adquirida/complicações , Síndrome de Imunodeficiência Adquirida/imunologia , Síndrome de Imunodeficiência Adquirida/patologia , Síndrome de Imunodeficiência Adquirida/terapia , Antibacterianos/administração & dosagem , Infecções Bacterianas/tratamento farmacológico , Infecções Bacterianas/patologia , /patologia , Carcinoma Pulmonar de Células não Pequenas/microbiologia , Carcinoma Pulmonar de Células não Pequenas/virologia , HIV/efeitos dos fármacos , Hepatite B/complicações , Hepatite B/imunologia , Hepatite B/patologia , Hepatite C/complicações , Hepatite C/tratamento farmacológico , Hepatite C/patologia , Humanos , Neoplasias Pulmonares/microbiologia , Neoplasias Pulmonares/virologia , Microbiota/efeitos dos fármacos , Microbiota/imunologia
4.
Tex Med ; 116(3): 23-25, 2020 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-32232803

RESUMO

Texas developed the AIDS Regional Information and Evaluation System in the early 1990s to administer federal grants from the then-new Ryan White program, which provides HIV- and AIDS-related health services for patients who can't get health care coverage or financial resources any other way. Physicians say the reservoir of medical data can be valuable, and without it, they can't get the funds they need to treat these patients. But the outdated reporting system - which still operates on 1990s technology - causes serious headaches and detracts from patient care.


Assuntos
Síndrome de Imunodeficiência Adquirida/terapia , Registros Eletrônicos de Saúde/tendências , Infecções por HIV/terapia , Administração Financeira , Humanos , Texas
5.
Adv Exp Med Biol ; 1228: 411-421, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32342474

RESUMO

Physical exercise is a common type of planned physical activity in order to enhance or maintain a person's physical fitness. Physical exercise may act as an effective strategy to take control of certain conditions associated with HIV-1 infection. HIV infection and its related treatments not only affect the immune system but also cause several musculoskeletal disorders including pre-sarcopenia or sarcopenia, myalgia, and low bone mineral density. Moderate- to high-intensity aerobic exercise, progressive resistance exercise, or a combination of both is considered as a complementary part of medical care and treatment of HIV-infected individuals. In the present chapter, the results of recent investigations regarding the effects of physical activity on muscle strength and function, mental health, and immune system of HIV infected individuals will be discussed.


Assuntos
Exercício Físico/fisiologia , Infecções por HIV/imunologia , Infecções por HIV/psicologia , Saúde Mental , Qualidade de Vida , Síndrome de Imunodeficiência Adquirida/imunologia , Síndrome de Imunodeficiência Adquirida/psicologia , Síndrome de Imunodeficiência Adquirida/terapia , HIV/imunologia , HIV/patogenicidade , Infecções por HIV/terapia , Humanos
6.
PLoS One ; 15(3): e0228163, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32130229

RESUMO

Anti-retroviral therapy (ART) has been highly successful in controlling HIV replication, reducing viral burden, and preventing both progression to AIDS and viral transmission. Yet, ART alone cannot cure the infection. Even after years of successful therapy, ART withdrawal leads inevitably to viral rebound within a few weeks or months. Our hypothesis: effective therapy must control both the replicating virus pool and the reactivatable latent viral reservoir. To do this, we have combined ART and immunotherapy to attack both viral pools simultaneously. The vaccine regimen consisted of DNA vaccine expressing SIV Gag, followed by a boost with live attenuated rubella/gag vectors. The vectors grow well in rhesus macaques, and they are potent immunogens when used in a prime and boost strategy. We infected rhesus macaques by high dose mucosal challenge with virulent SIVmac251 and waited three days to allow viral dissemination and establishment of a reactivatable viral reservoir before starting ART. While on ART, the control group received control DNA and empty rubella vaccine, while the immunotherapy group received DNA/gag prime, followed by boosts with rubella vectors expressing SIV gag over 27 weeks. Both groups had a vaccine "take" to rubella, and the vaccine group developed antibodies and T cells specific for Gag. Five weeks after the last immunization, we stopped ART and monitored virus rebound. All four control animals eventually had a viral rebound, and two were euthanized for AIDS. One control macaque did not rebound until 2 years after ART release. In contrast, there was only one viral rebound in the vaccine group. Three out of four vaccinees had no viral rebound, even after CD8 depletion, and they remain in drug-free viral remission more than 2.5 years later. The strategy of early ART combined with immunotherapy can produce a sustained SIV remission in macaques and may be relevant for immunotherapy of HIV in humans.


Assuntos
Síndrome de Imunodeficiência Adquirida/terapia , Fármacos Anti-HIV/uso terapêutico , Vacinas contra a SAIDS/administração & dosagem , Síndrome de Imunodeficiência Adquirida dos Símios/terapia , Vírus da Imunodeficiência Símia/imunologia , Síndrome de Imunodeficiência Adquirida/sangue , Síndrome de Imunodeficiência Adquirida/imunologia , Síndrome de Imunodeficiência Adquirida/virologia , Animais , Terapia Combinada/métodos , Modelos Animais de Doenças , Esquema de Medicação , Quimioterapia Combinada/métodos , Produtos do Gene gag/genética , Produtos do Gene gag/imunologia , Vetores Genéticos/administração & dosagem , Vetores Genéticos/genética , Humanos , Macaca mulatta , Plasmídeos/administração & dosagem , Plasmídeos/genética , Vírus da Rubéola/imunologia , Vacinas contra a SAIDS/genética , Síndrome de Imunodeficiência Adquirida dos Símios/sangue , Síndrome de Imunodeficiência Adquirida dos Símios/imunologia , Síndrome de Imunodeficiência Adquirida dos Símios/virologia , Vírus da Imunodeficiência Símia/genética , Vírus da Imunodeficiência Símia/isolamento & purificação , Fatores de Tempo , Resultado do Tratamento , Vacinas Atenuadas/administração & dosagem , Vacinas de DNA/administração & dosagem , Vacinas de DNA/genética , Latência Viral/efeitos dos fármacos , Latência Viral/imunologia , Replicação Viral/efeitos dos fármacos , Replicação Viral/imunologia
8.
PLoS One ; 15(1): e0228135, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31986182

RESUMO

The introduction of "Treat All" (TA) has been promoted to increase the effectiveness of HIV/AIDS treatment by having patients initiate antiretroviral therapy at an earlier stage of their illness. The impact of introducing TA on the unit cost of treatment has been less clear. The following study evaluated how costs changed after Namibia's introduction of TA in April 2017. A two-year analysis assessed the costs of antiretroviral therapy (ART) during the 12 months before TA (Phase I-April 1, 2016 to March 31, 2017) and the 12 months following (Phase II-April 1, 2017 to March 31, 2018). The analysis involved interviewing staff at ten facilities throughout Namibia, collecting data on resources utilized in the treatment of ART patients and analyzing how costs changed before and after the introduction of TA. An analysis of treatment costs indicated that the unit cost of treatment declined from USD360 per patient per year in Phase I to USD301 per patient per year in Phase II, a reduction of 16%. This decline in unit costs was driven by 3 factors: 1) shifts in antiretroviral (ARV) regimens that resulted in lower costs for drugs and consumables, 2) negotiated reductions in the cost of viral load tests and 3) declines in personnel costs. It is unlikely that the first two of these factors were significantly influenced by the introduction of TA. It is unclear if TA might have had an influence on personnel costs. The reduction in personnel costs may have either represented a positive development (fewer personnel costs associated with increased numbers of healthier patients and fewer visits required) or alternatively may reflect constraints in Namibia's staffing. Prior to this study, it was expected that the introduction of TA would lead to a significant increase in the number of ART patients. However, there was less than a 4% increase in the number of adult patients at the 10 studied facilities. From a financial point of view, TA did not significantly increase the resources required in the ten sampled facilities, either by raising unit costs or significantly increasing the number of ART patients.


Assuntos
Síndrome de Imunodeficiência Adquirida/economia , Terapia Antirretroviral de Alta Atividade/economia , Análise Custo-Benefício , Custos de Cuidados de Saúde , Síndrome de Imunodeficiência Adquirida/epidemiologia , Síndrome de Imunodeficiência Adquirida/terapia , Humanos , Namíbia
9.
Rev. Pesqui. (Univ. Fed. Estado Rio J., Online) ; 12: 505-509, jan.-dez. 2020. tab
Artigo em Inglês, Português | LILACS, BDENF - Enfermagem | ID: biblio-1097201

RESUMO

Objetivo: avaliar a eficácia antimicrobiana da terapia fotodinâmica no tratamento da candidíase oral em pessoas vivendo com HIV/aids. Método: estudo experimental, qualitativo e descritivo com 18 pessoas vivendo com HIV/aids que manifestavam a candidíase oral, maiores de 18 anos, que estavam em tratamento no Hospital Universitário Gaffrée e Guinle. Este grupo subdividiu-se em um grupo controle, composto por sete pessoas, que recebeu tratamento com a terapia fotodinâmica e antifúngicos, e um grupo experimental, com 11, que recebeu apenas a terapia fotodinâmica. A evolução do tratamento de cada participante foi acompanhada por registros fotográficos em duas consultas, inicial e final. Esta pesquisa foi aprovada pelo Comitê de Ética em Pesquisa do hospital, parecer número 2.431.107. Resultados: a maioria dos participantes apresentou melhora clínica, ainda que discreta, e em apenas um houve piora clínica. Conclusão: a terapia fotodinâmica antimicrobiana pode ser eficaz no tratamento da candidíase oral em pessoas vivendo com HIV/Aids


Objective: evaluate the antimicrobial efficacy of photodynamic therapy in the treatment of oral candidiasis in people living with HIV/ aids. Method: experimental, qualitative and descriptive study with 18 people living with HIV/aids who presented oral candidiasis, over 18 years of age, who were being treated at the Gaffrée and Guinle University Hospital. This group was subdivided into a control group, composed of seven people, who received treatment with photodynamic and antifungal therapy, and an experimental group, with 11, who received only the photodynamic therapy. The evolution of the treatment of each participant was followed by photographic registers in two appointments, initial and final. This research was approved by the Research Ethics Committee from the hospital, dictum number 2.431.107. Results: most of the participants showed clinical improvement, albeit discrete, and in only one there was clinical worsening. Conclusion: antimicrobial photodynamic therapy may be effective in the treatment of oral candidiasis in people living with HIV/Aids


Objetivo: evaluar la eficacia antimicrobiana de la terapia fotodinámica en el tratamiento de la candidiasis bucal en personas que viven con VIH/sida. Método: estudio experimental, cualitativo y descriptivo con 18 personas viviendo con VIH/sida que manifestaban la candidiasis bucal, mayores de 18 años, que estaban en tratamiento en el Hospital Universitario Gaffrée y Guinle. Este grupo se subdividió en grupo control, compuesto por siete personas, que recibió tratamiento con la terapia fotodinámica y antifúngicos, y un grupo experimental, con 11, que recibió sólo la terapia fotodinámica. La evolución del tratamiento de cada participante fue acompañada por registros fotográficos en dos consultas, inicial y final. La investigación fue aprobada por el Comité de Ética en Investigación del lugar, dictamen número 2.431.107. Resultados: la mayoría de los participantes presentó mejoría clínica, aunque discreta, y en apenas uno hubo empeoramiento clínico. Conclusión: la terapia fotodinámica antimicrobiana puede ser eficaz en el tratamiento de la candidiasis bucal en personas que viven con el VIH/Sida


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Fotoquimioterapia/estatística & dados numéricos , Candidíase Bucal/terapia , Infecções Oportunistas Relacionadas com a AIDS/terapia , Fotoquimioterapia/métodos , Candidíase Bucal/epidemiologia , Síndrome de Imunodeficiência Adquirida/terapia , HIV , Farmacorresistência Fúngica
11.
Viruses ; 12(1)2019 12 24.
Artigo em Inglês | MEDLINE | ID: mdl-31878130

RESUMO

Dendritic cells (DCs) are involved in human and simian immunodeficiency virus (HIV and SIV) pathogenesis but also play a critical role in orchestrating innate and adaptive vaccine-specific immune responses. Effective HIV/SIV vaccines require strong antigen-specific CD4 T cell responses, cytotoxic activity of CD8 T cells, and neutralizing/non-neutralizing antibody production at mucosal and systemic sites. To develop a protective HIV/SIV vaccine, vaccine regimens including DCs themselves, protein, DNA, mRNA, virus vectors, and various combinations have been evaluated in different animal and human models. Recent studies have shown that DCs enhanced prophylactic HIV/SIV vaccine efficacy by producing pro-inflammatory cytokines, improving T cell responses, and recruiting effector cells to target tissues. DCs are also targets for therapeutic HIV/SIV vaccines due to their ability to reverse latency, present antigen, and augment T and B cell immunity. Here, we review the complex interactions of DCs over the course of HIV/SIV prophylactic and therapeutic immunizations, providing new insights into development of advanced DC-targeted HIV/SIV vaccines.


Assuntos
Vacinas contra a AIDS/imunologia , Síndrome de Imunodeficiência Adquirida/imunologia , Síndrome de Imunodeficiência Adquirida/terapia , Células Dendríticas/imunologia , Vírus da Imunodeficiência Símia/imunologia , Síndrome de Imunodeficiência Adquirida/prevenção & controle , Animais , Linfócitos T CD4-Positivos/imunologia , Linfócitos T CD8-Positivos/imunologia , Humanos , Macaca mulatta/imunologia
12.
Rev Esp Salud Publica ; 932019 Dec 02.
Artigo em Espanhol | MEDLINE | ID: mdl-31782412

RESUMO

The Human Immunodeficiency Virus (HIV) is integrated into the cellular genome remaining active or latent indefinitely. Antiretroviral therapy suppresses viral replication to undetectable levels but does not eradicate the virus. New therapeutic strategies are being developed, such as gene therapy, shock and kill, neutralizing monoclonal antibodies or therapeutic vaccines, which together with biomedical interventions, especially pre-exposure prophylaxis, are generating high optimism among the scientific community as weapons for a viral eradication. However, we do not pay enough attention to human behavior as an essential element to obtain eradication. We need to promote Public Health with the necessary human and economic tools to achieve eradication. The sole development of effective therapeutic strategies will not prevent the human immunodeficiency virus from continuing among us if we do not promote and develop Public Health.


Assuntos
Síndrome de Imunodeficiência Adquirida/prevenção & controle , Síndrome de Imunodeficiência Adquirida/terapia , Controle de Doenças Transmissíveis/métodos , Infecções por HIV/prevenção & controle , Infecções por HIV/terapia , Profilaxia Pré-Exposição/métodos , Saúde Pública/métodos , Síndrome de Imunodeficiência Adquirida/virologia , Fármacos Anti-HIV/uso terapêutico , HIV , Humanos , Espanha/epidemiologia
13.
J Urban Health ; 96(6): 845-855, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31677014

RESUMO

Delayed linkage to care deprives youth living with HIV of the benefits of HIV treatment and risks increased HIV transmission. Developing and testing linkage-to-care models that are capable of simultaneously addressing structural and individual obstacles are necessary to attain national goals for timely linkage of newly diagnosed youth to care. We assessed an integrated, multi-pronged strategy for improving youth's timely linkage to care carried out in eight adolescent medicine clinical trials units (AMTUs) in the USA. In phase I, the intervention strategy paired intensive medical case management with formalized relationships to local health departments, including granting of public health authority (PHA) to four of the AMTUs. In phase II, local coalitions run by the AMTUs to address structural changes to meet youth's HIV prevention and HIV testing needs began to advocate for local structural changes to improve timely access to care. Results of an ARIMA model demonstrated sustained decline in the average number of days to link to care over a 6-year period (ARIMA (1,2,1) AIC = 245.74, BIC = 248.70, p < .01)). By the end of the study, approximately 90% of youth linked to care had an initial medical visit in 42 or fewer days post-diagnosis. PHA improved the timeliness of linkage to care (b = - 69.56, p < .05). A piecewise regression suggested the addition of structural change initiatives during phase II made a statistically significant contribution to reducing time to linkage over and above achievements attained via case management alone (F (3,19) = 5.48, p < .01; Adj. R2 = .3794). Multi-level linkage-to-care interventions show promise for improving youth's timely access to HIV medical care.


Assuntos
Síndrome de Imunodeficiência Adquirida/terapia , Infecções por HIV/terapia , Programas de Rastreamento/métodos , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Minorias Sexuais e de Gênero/psicologia , Minorias Sexuais e de Gênero/estatística & dados numéricos , Adolescente , Adulto , Feminino , Humanos , Masculino , Estados Unidos , Adulto Jovem
14.
PLoS One ; 14(10): e0221853, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31596865

RESUMO

BACKGROUND: In Sub-Saharan Africa, both HIV/AIDS and anemia have considerable public health problems. Anemia has an adverse effect on treatment outcome and it decreases the quality of life among adult HIV patients. This study was aimed to assess the prevalence of anemia and its associated factors among adult HIV positive patients in Wolaita Sodo University Teaching Referral Hospital. METHOD: Institution based cross-sectional study was conducted at Wolaita Sodo University Teaching Referral Hospital from 01 October to December 30, 2016. A randomly selected 411 adult people living with the human immunodeficiency virus were included in the study. A pre-tested questionnaire was used to collect data. Variables with P-value ≤0.25 in the bivariable logistic regression model were taken into multivariable logistic regression analysis along with 95% confidence interval and Odds Ratio was used to examine the association between anemia and independent variables. P-value ≤ 0.05 was taken as statistically significant. RESULT: Prevalence of anemia in this study was 36.5% with 95% CI (32%-41%). Factors associated with anemia among adult people living with HIV/AIDS were individuals who lived with HIV ≥9years (AOR = 2.6, 95% CI:-1.03-6.59),years lived with HIV 5-8 years (AOR = 2.59, 95% CI:-1.02-6.57),CD4 count <200cells/ul (AOR = 4.2, 95%CI:-2.03-8.67), CD4 count200-350cells/ul(AOR = 1.82,95%CI:-1.01-3.26),infection with intestinal parasites (AOR = 2.04, 95% CI:-1.06-3.95), Participants with BMI <18.5kg/m2 (AOR = 2.96, 95%CI:-1.37-6.390),BMI 18.5-25kg/m2(AOR = 1.98, 95%CI:-1.11-3.56) and being HAART naïve (AOR = 2.23, 95% CI:- 1.16-4.28). CONCLUSION: Prevalence of anemia among this study participant was high. This may affect the treatment outcome, increases morbidity and mortality of the participants. So periodic screening of anemia, a routine checkup of nutritional status, CD4 count and examination for intestinal parasite are essential.


Assuntos
Síndrome de Imunodeficiência Adquirida/epidemiologia , Anemia/epidemiologia , HIV-1 , Hospitais de Ensino , Síndrome de Imunodeficiência Adquirida/complicações , Síndrome de Imunodeficiência Adquirida/terapia , Adulto , Anemia/etiologia , Anemia/terapia , Etiópia/epidemiologia , Feminino , Humanos , Masculino , Prevalência , Encaminhamento e Consulta , Fatores de Risco , Inquéritos e Questionários
15.
PLoS One ; 14(10): e0223426, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31596884

RESUMO

BACKGROUND: Since 2004, the President's Emergency Plan for AIDS Relief (PEPFAR) has played a large role in Uganda's HIV/AIDS response. To better target resources to high burden regions and facilities, PEPFAR planned to withdraw from 29% of previously-supported health facilities in Uganda between 2015 and 2017. METHODS: We conducted a cross-sectional survey of 226 PEPFAR-supported health facilities in Uganda in mid-2017. The survey gathered information on availability, perceived quality, and access to HIV services before and after transition. We compare responses for facilities transitioned to those maintained on PEPFAR, accounting for survey design. We also extracted data from DHIS2 for the period October 2013-December 2017 on the number of HIV tests and counseling (HTC), number of patients on antiretroviral therapy (Current on ART), and retention on first-line ART (Retention) at 12 months. Using mixed effect models, we compare trends in service volume around the transition period. RESULTS: There were 206 facilities that reported transition and 20 that reported maintenance on PEPFAR. Some facilities reporting transition may have been in a gap between implementing partners. The median transition date was September 2016, nine months prior to the survey. Transition facilities were more likely to discontinue HIV outreach following transition (51.6% vs. 1.4%, p<0.001) and to report declines in HIV care access (43.5% vs. 3.1%, p<0.001) and quality (35.6% vs. 0%, p<0.001). However, transition facilities did not differ in their trends in HIV service volume relative to maintenance facilities. CONCLUSIONS: Transition from PEPFAR resulted in facilities reporting worsening patient access and service quality for HIV care, but there is insufficient evidence to suggest negative impacts on volume of HIV services. Facility respondents' perceptions about access and quality may be overly pessimistic, or they may signal forthcoming impacts. Unrelated to transition, declining retention on ART in Uganda is a cause for concern.


Assuntos
Síndrome de Imunodeficiência Adquirida/prevenção & controle , Assistência à Saúde/estatística & dados numéricos , Programas Governamentais , Implementação de Plano de Saúde/estatística & dados numéricos , Síndrome de Imunodeficiência Adquirida/terapia , Assistência à Saúde/normas , Implementação de Plano de Saúde/normas , Avaliação de Programas e Projetos de Saúde , Uganda
17.
Mol Genet Genomic Med ; 7(11): e923, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31503426

RESUMO

BACKGROUND: Pediatric myelodysplastic syndromes (MDS) display clonal genomic instability that can lead to acquisition of other hematological disorders, usually by loss of heterozygosity. Immunodeficiency caused by uniparental disomy (UPD) has not previously been reported. METHODS: We investigated a 13-year-old boy who suffered from recurrent infections and pancytopenia for 1 year. Both the comet assay and chromosome breakage analysis were normal, but the bone marrow showed evidence of dysplasia characteristic of MDS. With his normal sister as donor, he underwent failed hematopoietic stem cell transplantation (HSCT) with reduced intensity conditioning (RIC) followed by successful HSCT with myeloablative conditioning (MAC). We used single nucleotide polymorphism (SNP) array, targeted gene panel, and whole exome sequencing to investigate the etiology of his disease. RESULTS: The molecular analyses revealed multiple regions of homozygosity, one region encompassing a homozygous missense variant of recombination activating gene 1 (RAG1) which was previously associated with severe immunodeficiency in infancy. This RAG1 mutation was heterozygous in the proband's fingernail DNA, but was changed to homozygous in the proband's marrow by somatic acquisition of UPD event. No other pathogenic driver mutation for MDS-related genes was identified. CONCLUSION: The hematological phenotype, somatic genomic instability, and response to HSCT MAC but not HSCT RIC deduced to a diagnosis of MDS type refractory cytopenia of children in this patient. His immunodeficiency was secondary to MDS due to somatic acquisition of homozygosity for known pathogenic RAG1 mutation.


Assuntos
Síndrome de Imunodeficiência Adquirida/patologia , Mutação , Síndromes Mielodisplásicas/patologia , Dissomia Uniparental/fisiopatologia , Síndrome de Imunodeficiência Adquirida/etiologia , Síndrome de Imunodeficiência Adquirida/terapia , Adolescente , Transplante de Células-Tronco Hematopoéticas , Proteínas de Homeodomínio/genética , Humanos , Masculino , Síndromes Mielodisplásicas/etiologia , Síndromes Mielodisplásicas/terapia , Prognóstico
18.
Artigo em Inglês | MEDLINE | ID: mdl-31480218

RESUMO

Since the start of the HIV and AIDS epidemic, very little research has been conducted on the older persons' provision of HIV-related care to adult children. This is despite the fact that a large proportion of adults who die of AIDS-related illnesses stay with their elderly parents during the terminal stage of their illnesses. This paper explores how older persons in rural settings experience caring for their adult children with AIDS-related illnesses. In-depth interviews took place with older persons aged 60 years and above. The qualitative data analysis was informed by thematic approach to identify and report themes using inductive approach. The paper found that the older persons undertake the caring role without resources and support. As a result, they are burdened with having to care for adult children with AIDS-related illness. Fatigue arising from the hard work of physically caring for their sick adult children day and night adds to the physical burden on the older persons. Older persons will continue to carry the burden of caring for people with AIDS-related illnesses due to the increase in the number of new infections in South Africa. There is a need to involve them in HIV/AIDS programmes; their experience and wisdom would surely contribute positively and assist in addressing HIV prevention.


Assuntos
Síndrome de Imunodeficiência Adquirida/terapia , Crianças Adultas , Cuidadores/estatística & dados numéricos , População Rural/estatística & dados numéricos , Idoso , Idoso de 80 Anos ou mais , Cuidadores/psicologia , Humanos , Pessoa de Meia-Idade , África do Sul
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