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1.
Telemed J E Health ; 30(5): 1491-1494, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38190285

RESUMEN

The studies presented in this literature review reveal the numerous ways that teletherapy can be used to treat patients with mental health issues. The literature includes six research articles from published scientific journals that span from 2005 to 2020. The three types of telehealth therapy reviewed include mobile telehealth, telephone, and video technology. The six research articles focus on the ways that telehealth can reach communities of lower socioeconomic status (SES) and those suffering from access barriers. The benefits of teletherapy include cost savings, time efficiency, easier access, and a reduction in recidivism. Challenges include access barriers, financial difficulties, anxiety, and fear of stigmatization. Limitations of the studies presented include a lack of accessibility to internet and technology, privacy issues, and insurance coverage. Overall, results show that teletherapy provides an affordable, accessible alternative to traditional in-person mental health therapy, especially in reaching lower SES groups, Veterans, and patients with access restrictions.


Asunto(s)
Accesibilidad a los Servicios de Salud , Trastornos Mentales , Teleterapia de Salud Mental , Humanos , Trastornos Mentales/terapia
2.
Am J Med Genet A ; 188(9): 2825-2831, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35670385

RESUMEN

PERCHING syndrome is a rare multisystem developmental disorder caused by autosomal recessive (AR) variants (truncating and missense) in the Kelch-like family member 7 gene (KLHL7). We report the first phenotypic and molecular description of PERCHING syndrome in a patient from Central Africa. The patient presented multiple dysmorphic features in addition to neurological, respiratory, gastroenteric, and dysautonomic disorders. Clinical Whole Genome Sequencing in the proband and his mother identified two novel heterozygous variants in the KLHL7 gene, including a maternally inherited intronic variant (NM_001031710.2:c.793 + 5G > C) classified as Variant of Uncertain Significance and a frameshift stop gain variant (NM_001031710.2:c.944delG; p.Ser315ThrfsTer23) of unknown inheritance classified as likely pathogenic. Although the diagnosis was only evoked after genomic testing, the review of published patients suggests that this disease could be clinically recognizable and maybe considered as an encephalopathy. Our report will allow expanding the phenotypic and molecular spectrum of Perching syndrome.


Asunto(s)
Codón sin Sentido , Heterocigoto , Humanos , Mutación , Secuenciación Completa del Genoma
3.
J Oncol Pharm Pract ; 25(3): 520-528, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-29157145

RESUMEN

BACKGROUND: Clostridium difficile infection treatment guidelines exist for immunocompetent patients; however, there is a paucity of data evaluating clinical outcomes and time to C. difficile-associated diarrhea resolution in neutropenic patients. OBJECTIVE: To assess clinical outcomes in neutropenic patients treated with metronidazole, oral vancomycin, the combination of metronidazole plus oral vancomycin, and switch of metronidazole to oral vancomycin. METHODS: This retrospective, observational cohort study assessed adult neutropenic inpatients with C. difficile-associated diarrhea treated with metronidazole, oral vancomycin, combination (metronidazole and oral vancomycin), or switch therapy (metronidazole to oral vancomycin). The primary outcome was time to diarrhea resolution based on treatment regimen. Secondary outcomes included C. difficile-associated diarrhea resolution of diarrhea by day 14, recurrence, and occurrence of major complications. RESULTS: Overall, 44 patients met full inclusion criteria (52.2% metronidazole monotherapy, 22.7% combination, and 25.0% switch therapy). Two patients on oral vancomycin monotherapy were excluded due to insufficient sample size. Overall time to C. difficile-associated diarrhea resolution was 9.1 ± 10.7 days. The Cox regression results suggested both switch and combination therapy were associated with 65.5% (p = 0.002) and 65.9% (p = 0.046) longer time to C. difficile-associated diarrhea resolution compared to metronidazole monotherapy, respectively. An increasing absolute neutrophil count was associated with an increase in C. difficile-associated diarrhea resolution (p = 0.007). CONCLUSION: Switch or combination therapy was associated with a prolonged time to C. difficile-associated diarrhea resolution. The decision to use switch or combination therapy may represent a surrogate marker for more severe disease and need for therapy escalation. It is unknown if initial therapy with oral vancomycin would provide better outcomes as this could not be assessed.


Asunto(s)
Antibacterianos/uso terapéutico , Infecciones por Clostridium/tratamiento farmacológico , Metronidazol/uso terapéutico , Vancomicina/uso terapéutico , Adulto , Anciano , Clostridioides difficile/efectos de los fármacos , Estudios de Cohortes , Diarrea/tratamiento farmacológico , Femenino , Humanos , Pacientes Internos , Recuento de Leucocitos , Masculino , Persona de Mediana Edad , Neutrófilos/metabolismo , Recurrencia , Estudios Retrospectivos , Resultado del Tratamiento
5.
Hematol Oncol Stem Cell Ther ; 16(1): 52-60, 2023 Jan 12.
Artículo en Inglés | MEDLINE | ID: mdl-36634281

RESUMEN

OBJECTIVE/BACKGROUND: Allogeneic hematopoietic stem cell transplant (HSCT) is the potential curative modality for poor-risk acute myeloid leukemia (AML), relapse remains the main reason for transplant failure. Early-phase studies showed azacitidine is safe for post-transplant maintenance therapy in AML. METHODS: We performed a single institutional prospective cohort study to evaluate the benefit of azacitidine maintenance therapy following allogeneic HSCT in poor-risk AML. The main objective of this study is to generate a hypothesis aiming to optimize post-transplantation outcomes in poor-risk AML. Forty-nine adults with poor-risk AML who underwent allogeneic HSCT were evaluated in a nonrandomized prospective cohort fashion. Thirty-one participants received post-transplant azacitidine (32 mg/m2) on Days 1-5 for a 28-day treatment cycle beginning approximately 40 days after transplantation. The study was controlled using 18 matched individuals who were on a noninterventional surveillance protocol. RESULTS: The relapse rate was significantly higher in the control cohort (66.67%) versus (25.81%) in the azacitidine maintenance cohort ( p < .005). Time to relapse was significantly prolonged by azacitidine maintenance, not reached versus 4.1 months in the control arm ( p < .0001). In addition, median overall survival was lower in the control cohort at 7.6 versus 27.4 months in the interventional cohort ( p < .0001). At a median follow-up of 24 months, incidence of graft-versus-host disease (GVHD) did not differ between study groups ( p = .325). In both cohorts, minimal residual disease was correlated with higher hazard of relapse (95% confidence interval, 2.31-13.74; p < .001). CONCLUSION: We conclude that low dose azacitidine maintenance following allogeneic HSCT in poor-risk AML, decreased relapse rate, and increased both the time to relapse and overall survival without increased risk of GVHD.


Asunto(s)
Enfermedad Injerto contra Huésped , Trasplante de Células Madre Hematopoyéticas , Leucemia Mieloide Aguda , Síndromes Mielodisplásicos , Adulto , Humanos , Azacitidina/uso terapéutico , Estudios Prospectivos , Síndromes Mielodisplásicos/terapia , Trasplante de Células Madre Hematopoyéticas/efectos adversos , Enfermedad Injerto contra Huésped/etiología , Enfermedad Injerto contra Huésped/prevención & control , Recurrencia , Estudios Retrospectivos
6.
J Bacteriol ; 184(13): 3457-65, 2002 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-12057939

RESUMEN

Production of type IV bundle-forming pili (BFP) by enteropathogenic Escherichia coli (EPEC) requires the protein products of 12 genes of the 14-gene bfp operon. Antisera against each of these proteins were used to demonstrate that in-frame deletion of individual genes within the operon reduces the abundance of other bfp operon-encoded proteins. This result was demonstrated not to be due to downstream polar effects of the mutations but rather was taken as evidence for protein-protein interactions and their role in the stabilization of the BFP assembly complex. These data, combined with the results of cell compartment localization studies, suggest that pilus formation requires the presence of a topographically discrete assembly complex that is composed of BFP proteins in stoichiometric amounts. The assembly complex appears to consist of an inner membrane component containing three processed, pilin-like proteins, BfpI, -J, and -K, that localize with BfpE, -L, and -A (the major pilin subunit); an outer membrane, secretin-like component, BfpB and -G; and a periplasmic component composed of BfpU. Of these, only BfpL consistently localizes with both the inner and outer membranes and thus, together with BfpU, may articulate between the Bfp proteins in the inner membrane and outer membrane compartments.


Asunto(s)
Proteínas de la Membrana Bacteriana Externa/metabolismo , Escherichia coli/fisiología , Proteínas Fimbrias , Fimbrias Bacterianas/metabolismo , Secuencia de Aminoácidos , Proteínas de la Membrana Bacteriana Externa/genética , Reacciones Cruzadas , Escherichia coli/patogenicidad , Proteínas de Escherichia coli/genética , Proteínas de Escherichia coli/metabolismo , Fimbrias Bacterianas/genética , Lipoproteínas , Datos de Secuencia Molecular , Mutación , Sistemas de Lectura Abierta , Operón
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