Midline Cervical Cleft: An Anatomical Finding and a Proposal for a New Approach.

Congenital midline cervical cleft is a rare malformation. Typical case shows an area of hypotrophic skin, a cranial nipple-like structure, and a caudal blind sinus. Cervical extension is limited. Relapse of the retraction is common following cutaneous z-plasty. The aim of this study is to describe the radiological, surgical, and histological findings of the 4 cases treated in our center in the last 8 years and communicate the finding of a contractile structure, anterior to the platysma, composed by striated muscle, figure not previously described. This distinct muscular band is responsible for neck retraction. Removal of this releases cervical tension and is essential to avoid the relapse.

Optimization of a home hospitalization program for hematopoietic stem cell transplantation with ehealth integration and clinical pharmacist involvement.

Home hospitalization represents an alternative to traditional hospitalization, providing comparable clinical safety for hematological patients. At-home therapies can range from the delivery of intravenous antibiotics to more complex scenarios, such as the care during the early period after hematopoietic stem cell transplantation and chimeric antigen receptor T-cell therapy. Early discharge from conventional hospitalization is feasible and helps reduce hospital resources and waiting lists. The coordinated efforts of multidisciplinary teams, including hematologists, nurses, and pharmacists, ensure patient safety and continuity of care. The traditional model of home hospitalization relies on home visits and telephone consultations with physicians and nurses. However, the use of eHealth technologies, such as MY-Medula, can enhance communication and monitoring, and thereby improve patient outcomes with no additional costs. The active involvement of a clinical pharmacist in home hospitalization programs is essential, not only for the proper logistical management of the medication but also to ensure its appropriateness, optimize treatment, address queries from the team and patients, and promote adherence. In conclusion, the implementation of hematopoietic stem cell transplantation and chimeric antigen receptor T-cell therapy home hospitalization programs that use both an eHealth tool and a multidisciplinary care model can optimize patient care and improve quality of life without increasing healthcare costs.

Feasibility of a New Model of Care for Allogeneic Stem Cell Transplantation Recipients Facilitated by eHealth: The MY-Medula Pilot Study.

The use of allogeneic stem cell transplantation (allo-SCT) for the treatment of hematologic diseases is steadily increasing; however, allo-SCT has the downside of causing considerable treatment-related morbidity and mortality. Mobile technology applied to healthcare (mHealth) has proven to be a cost-effective strategy to improve care and offer new services to people with multimorbidity, but there are little data on its usefulness in allo-SCT recipients. Here we describe a new integrated healthcare model facilitated by an mHealth platform, EMMASalud-MY-Medula, and to report the results of a feasibility and usability pilot study. The MY-Medula platform was developed in 4 phases. First, patient and healthcare professional needs were identified, and technological development and pretesting tests were conducted (phases 1 to 3, January 2016 to March 2021). Then a nonrandomized, prospective, observational, single-center pilot study was conducted (October 2021 to January 2022) at the adult SCT unit of a tertiary university hospital. Twenty-eight volunteer allo-SCT recipients were included in the pilot study, of whom one-half were outpatients in the first-year post-SCT and one-half were affected by steroid-dependent graft-versus-host disease (SR-GVHD). All patients used the MY-Medula app during the 2-month follow-up period, with a median number of visits to the app of 143 (range, 6 to 477). A total of 2067 self-monitoring records were created, and 205 text messages were received, most of them related to symptoms description (47%) and doubts about medication (21%). In 3.4% of the cases, drug dosage was adjusted by the pharmacist because of dosing errors or interactions. At the end of the study, a 6-question Likert-type questionnaire for patients and a 22-question test for healthcare professionals showed a high degree of satisfaction (95% and 100%, respectively) with the new healthcare pathway. Reengineering the follow-up of allo-SCT recipients into an integrated, multidisciplinary model of care facilitated by mHealth tools is feasible and has been associated with high usability and a high degree of satisfaction by patients and healthcare professionals. A randomized trial aiming to determine the cost-effectiveness of MY-Medula-based follow-up post-SCT is currently enrolling participants.

Single-Center Experience with Trabectedin for the Treatment of Non-L-sarcomas.

INTRODUCTION: The effectiveness of trabectedin for the treatment of leiomyosarcoma and liposarcoma (commonly referred to as L-sarcomas) has been widely evidenced in clinical trials and real-world studies. Nevertheless, available literature on non-L-sarcomas is less abundant. The objective of the present study is to evaluate the effectiveness and safety of trabectedin in a cohort of patients with non-L-sarcomas in the real-world setting. METHODS: This retrospective, observational study included 34 patients who received trabectedin in the Hospital de la Santa Creu i Sant Pau (Barcelona, Spain) between October 2013 and July 2020. RESULTS: The most frequent histologic subtypes were undifferentiated spindle cell/pleomorphic sarcoma (n = 11, 32.4%), synovial sarcoma (n = 6, 17.7%), myxofibrosarcoma (n = 5, 14.7%), and malignant peripheral nerve sheath tumor (n = 4, 11.8%). The mean number of cycles with trabectedin was 5.5 (range 2-28). Three patients achieved partial response (8.8%) and eight patients showed stable disease (23.5%). The objective response rate and disease control rate were 8.8% (95% confidence interval (CI), 95% CI 1.9-23.7) and 32.4% (95% CI 17.4-50.5), respectively. Overall, progression-free survival was 2.9 months (95% CI 2.1-3.4). The overall survival was 7.3 months (95% CI 4.7-12.8). The most common trabectedin-related grade 3 adverse events were observed in 10 patients (26.5%), mostly being neutropenia (14.7%) and elevated transaminases (5.9%), whereas one patient (2.9%) reported grade 4 febrile neutropenia that required hospitalization. CONCLUSIONS: The findings of this real-life study consistently support that trabectedin is an effective and safe option for the treatment of patients with non-L-sarcoma after failure of anthracyclines and ifosfamide, or in patients who are unsuited to receive these agents.

Frequency and clinical relevance of DPYD genetic variants in gastrointestinal cancer patients.

OBJECTIVE: To determine the prevalence of loss-of-function variants in the dihydropyrimidine dehydrogenase gene in patients with gastrointestinal neoplasms, assess their clinical relevance, and evaluate the  implementation of a multidisciplinary circuit at three months from its  implementation. METHOD: This is a descriptive, observational and retrospective study, which  included adult patients with gastrointestinal cancer treated at a tertiary  university hospital who underwent dihydropyrimidine dehydrogenase genotyping between September 2019 and December 2020. The  variables collected were sex, age, type of cancer, location, stage, treatment received, indication of treatment and degree of toxicity  developed during the first three cycles. The genotyped variants were  rs3918290 (c.1905+1G>A), rs55886062 (c.1679T>G), rs67376798  (c.2846A>T) and rs75017182 (c.1129-5923C>G). RESULTS: A total of 115 patients were included. The frequency of heterozygous dihydropyrimidine dehydrogenase variant carriers was 9.6% (11  patients). The most frequently identified variant was rs75017182 (6 patients). The second most common variant was rs67376798 (3 patients),  followed by rs3918290 (2 patients). No patients presented with the  rs55886062 variant. Two of the dihydropyrimidine dehydrogenase carriers  developed  grade 3-5 toxicity after the first cycle of a regimen that included  fluoropyrimidines. Both received full doses of fluoropyrimidine, since their  dihydropyrimidine dehydrogenase genotype was unknown before treatment  initiation. None of the dihydropyrimidine dehydrogenase carriers who began treatment with a reduced dose of fluoropyrimidine experienced grade 3-5  toxicity. Since the creation in October 2020 of a multidisciplinary team, with  the active participation of hospital pharmacists, the monthly average of dihydropyrimidine dehydrogenase genotyping studies has increased from 6.4  (January-October) to 17.5 (November-December). CONCLUSIONS: The present study shows a relatively high prevalence of loss-of- function variants in the dihydropyrimidine dehydrogenase gene as well as the  importance of genotyping such variants before starting a treatment with  fluoropyrimidines. Hospital pharmacists can contribute to the implementation  of pharmacogenetics in daily clinical practice in a tertiary hospital.

OBJETIVO: Determinar la prevalencia de variantes de pérdida de función en el  gen de la dihidropirimidina deshidrogenasa (DPYD) en pacientes con tumores  digestivos, valorar su relevancia clínica y evaluar la implementación de un  circuito multidisciplinar tras tres meses de funcionamiento.Método: Estudio descriptivo, observacional y retrospectivo donde se incluyeron los pacientes adultos afectos de tumores digestivos, atendidos en  un hospital universitario de tercer nivel, a los que se había  afectuado el genotipado de DPYD entre septiembre de 2019 y diciembre de  2020. Las variables recogidas fueron sexo, edad, tipo de cáncer, localización,  estadio, tratamiento recibido, indicación del tratamiento y grado de toxicidad desarrollado durante los tres primeros ciclos. Se genotiparon las  variantes rs3918290 (c.1905+1G>A), rs55886062 (c.1679T>G), rs67376798 (c.2846A>T) y rs75017182 (c.1129-5923C>G). RESULTADOS: Se incluyeron 115 pacientes. La frecuencia de portadores en  heterocigosis de variantes del gen DPYD fue del 9,6% (11 pacientes). La  variante más frecuentemente identificada fue el rs75017182 (6 pacientes). La  segunda variante más frecuente fue el rs67376798 (3 pacientes), seguida del  rs3918290 (2 pacientes). Ningún paciente presentó la variante rs55886062.  Dos de los pacientes portadores desarrollaron toxicidad  grados 3-5 tras el  primer ciclo de un esquema que incluía fluoropirimidinas. Ambos recibieron  dosis plenas de fluoropirimidina, puesto que no se conocía el genotipo de DPYD antes de iniciar el tratamiento. Ninguno de los pacientes portadores que  tmpezó el tratamiento con una dosis reducida de fluoropirimidina experimentó  toxicidad grados 3-5. Desde la creación en octubre de 2020 de un equipo  multidisciplinar, con participación activa del farmacéutico hospitalario, se ha  incrementado el número de estudios de genotipado de DPYD de una media de  6,4 estudios mensuales (enero-octubre) a 17,5 (noviembre-diciembre). CONCLUSIONES: Nuestro estudio muestra la relativamente elevada prevalencia de variantes de pérdida de función en el gen DPYD, así como la  importancia de genotiparlas antes de empezar un esquema de tratamiento que  contenga fluoropirimidinas. El farmacéutico hospitalario puede contribuir a la implementación de la farmacogenética en la  práctica clínica diaria en un hospital de tercer nivel.

Frecuencia y relevancia clínica de las variantes del gen DPYD en pacientes con tumores digestivos / Frequency and clinical relevance of DPYD genetic variants in gastrointestinal cancer patients

Objetivo: Determinar la prevalencia de variantes de pérdida de funciónen el gen de la dihidropirimidina deshidrogenasa (DPYD) en pacientescon tumores digestivos, valorar su relevancia clínica y evaluar la implementación de un circuito multidisciplinar tras tres meses de funcionamiento.Método: Estudio descriptivo, observacional y retrospectivo donde seincluyeron los pacientes adultos afectos de tumores digestivos, atendidosen un hospital universitario de tercer nivel, a los que se había efectuado elgenotipado de DPYD entre septiembre de 2019 y diciembre de 2020. Lasvariables recogidas fueron sexo, edad, tipo de cáncer, localización, estadio, tratamiento recibido, indicación del tratamiento y grado de toxicidaddesarrollado durante los tres primeros ciclos. Se genotiparon las variantesrs3918290 (c.1905+1G>A), rs55886062 (c.1679T>G), rs67376798(c.2846A>T) y rs75017182 (c.1129-5923C>G).Resultados: Se incluyeron 115 pacientes. La frecuencia de portadoresen heterocigosis de variantes del gen DPYD fue del 9,6% (11 pacientes).La variante más frecuentemente identificada fue el rs75017182 (6 pacientes). La segunda variante más frecuente fue el rs67376798 (3 pacientes),seguida del rs3918290 (2 pacientes). Ningún paciente presentó la varianters55886062. (AU)

Objective: To determine the prevalence of loss-of-function variants in thedihydropyrimidine dehydrogenase gene in patients with gastrointestinalneoplasms, assess their clinical relevance, and evaluate the implementation of a multidisciplinary circuit at three months from its implementation.Method: This is a descriptive, observational and retrospective study,which included adult patients with gastrointestinal cancer treated at atertiary university hospital who underwent dihydropyrimidine dehydrogenase genotyping between September 2019 and December 2020.The variables collected were sex, age, type of cancer, location, stage,treatment received, indication of treatment and degree of toxicity developed during the first three cycles. The genotyped variants were rs3918290(c.1905+1G>A), rs55886062 (c.1679T>G), rs67376798 (c.2846A>T)and rs75017182 (c.1129-5923C>G).Results: A total of 115 patients were included. The frequency of heterozygous dihydropyrimidine dehydrogenase variant carriers was 9.6%(11 patients). The most frequently identified variant was rs75017182 (6 patients).The second most common variant was rs67376798 (3 patients), followedby rs3918290 (2 patients). No patients presented with the rs55886062variant. (AU)