scholarly journals A Genotyping/Phenotyping Approach with Careful Clinical Monitoring to Manage the Fluoropyrimidines-Based Therapy: Clinical Cases and Systematic Review of the Literature

2020 ◽  
Vol 10 (3) ◽  
pp. 113 ◽  
Author(s):  
Valeria Conti ◽  
Emanuela De Bellis ◽  
Valentina Manzo ◽  
Francesco Sabbatino ◽  
Francesco Iannello ◽  
...  
Keyword(s):  
Systematic Review ◽  
High Performance ◽  
Dosage Reduction ◽  
Dihydropyrimidine Dehydrogenase ◽  
Case Series ◽  
Clinical Monitoring ◽  
Tandem Mass ◽  
Severe Toxicity ◽  
Review Of The Literature ◽  
Dpyd Gene

Fluoropyrimidines (FP) are mainly metabolised by dihydropyrimidine dehydrogenase (DPD), encoded by the DPYD gene. FP pharmacogenetics, including four DPYD polymorphisms (DPYD-PGx), is recommended to tailor the FP-based chemotherapy. These polymorphisms increase the risk of severe toxicity; thus, the DPYD-PGx should be performed prior to starting FP. Other factors influence FP safety, therefore phenotyping methods, such as the measurement of 5-fluorouracil (5-FU) clearance and DPD activity, could complement the DPYD-PGx. We describe a case series of patients in whom we performed DPYD-PGx (by real-time PCR), 5-FU clearance and a dihydrouracil/uracil ratio (as the phenotyping analysis) and a continuous clinical monitoring. Patients who had already experienced severe toxicity were then identified as carriers of DPYD variants. The plasmatic dihydrouracil/uracil ratio (by high-performance liquid chromatography (HPLC)) ranged between 1.77 and 7.38. 5-FU clearance (by ultra-HPLC with tandem mass spectrometry) was measured in 3/11 patients. In one of them, it reduced after the 5-FU dosage was halved; in the other case, it remained high despite a drastic dosage reduction. Moreover, we performed a systematic review on genotyping/phenotyping combinations used as predictive factors of FP safety. Measuring the plasmatic 5-FU clearance and/or dihydrouracil/uracil (UH2/U) ratio could improve the predictive potential of DPYD-PGx. The upfront DPYD-PGx combined with clinical monitoring and feasible phenotyping method is essential to optimising FP-based chemotherapy.

scholarly journals Fluoropyrimidine-Induced Severe Toxicities Associated with Rare DPYD Polymorphisms: Case Series from Saudi Arabia and a Review of the Literature

2021 ◽  
Vol 11 (3) ◽  
pp. 467-471
Author(s):  
Nedal Bukhari ◽  
Abdulraheem Alshangiti ◽  
Emad Tashkandi ◽  
Mohammed Algarni ◽  
Humaid O. Al-Shamsi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Saudi Arabia ◽  
Standard Dose ◽  
Dihydropyrimidine Dehydrogenase ◽  
Case Series ◽  
Gene Sequencing ◽  
Review Of The Literature ◽  
Dpyd Gene ◽  
First Case ◽  
Arabian Population

Dihydropyrimidine dehydrogenase (DPD) is the major enzyme in the catabolism of 5-Fluorouracil (5-FU) and its prodrug capecitabine. We report cases from our institute with colorectal cancer who experienced severe toxicities to standard dose 5-FU based chemotherapy. DPYD gene sequencing revealed rare different polymorphisms that prompted dose adjustments of administered 5-FU and capecitabine. To our knowledge, this is the first case series looking at DPYD polymorphisms in the Saudi Arabian population.

scholarly journals Failed Latarjet procedure: a systematic review of surgery revision options

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Matteo Buda ◽  
Riccardo D’Ambrosi ◽  
Enrico Bellato ◽  
Davide Blonna ◽  
Alessandro Cappellari ◽  
...  
Keyword(s):  
Systematic Review ◽  
Case Series ◽  
Review Of The Literature ◽  
Inclusion Criteria ◽  
Latarjet Procedure ◽  
Shoulder Stabilization ◽  
Recurrent Instability ◽  
Level Of Evidence ◽  
Radiographic Outcomes

Abstract Background Revision surgery after the Latarjet procedure is a rare and challenging surgical problem, and various bony or capsular procedures have been proposed. This systematic review examines clinical and radiographic outcomes of different procedures for treating persistent pain or recurrent instability after a Latarjet procedure. Methods A systematic review of the literature was performed using the Medline, Cochrane, EMBASE, Google Scholar and Ovid databases with the combined keywords “failed”, “failure”, “revision”, “Latarjet”, “shoulder stabilization” and “shoulder instability” to identify articles published in English that deal with failed Latarjet procedures. Results A total of 11 studies (five retrospective and six case series investigations), all published between 2008 and 2020, fulfilled our inclusion criteria. For the study, 253 patients (254 shoulders, 79.8% male) with a mean age of 29.6 years (range: 16–54 years) were reviewed at an average follow-up of 51.5 months (range: 24–208 months). Conclusions Eden–Hybinette and arthroscopic capsuloplasty are the most popular and safe procedures to treat recurrent instability after a failed Latarjet procedure, and yield reasonable clinical outcomes. A bone graft procedure and capsuloplasty were proposed but there was no clear consensus on their efficacy and indication. Level of evidence Level IV Trial registration PROSPERO 2020 CRD42020185090—www.crd.york.ac.uk/prospero/

scholarly journals Sinus Floor Augmentation—Associated Surgical Ciliated Cysts: Case Series and a Systematic Review of the Literature

2021 ◽  
Vol 11 (4) ◽  
pp. 1903
Author(s):  
Adrian Kahn ◽  
Shlomo Matalon ◽  
Rahaf Bassam Salem ◽  
Lazar Kats ◽  
Liat Chaushu ◽  
...  
Keyword(s):  
Systematic Review ◽  
Microscopic Examination ◽  
Literature Search ◽  
Case Series ◽  
Systematic Literature Search ◽  
Review Of The Literature ◽  
Inclusion Criteria ◽  
Sinus Floor Augmentation ◽  
Sinus Floor

This study aimed to characterize the demographic and clinical features of underreported surgical ciliated cysts developing after sinus floor augmentation, based on a series of cases from our files and a systematic review of the literature. A series of five cases (four patients) of microscopically confirmed surgical ciliated cysts following sinus floor augmentation procedures from our files are described. A systematic literature search (1991–2020) with strict clinical-, radiological- and microscopic-based exclusion and inclusion criteria was performed to detect additional similar cases. The systematic review revealed only five cases that fulfilled the inclusion criteria. Altogether, surgical ciliated cysts associated with sinus floor augmentation have been rarely reported in the literature, and have not been characterized either demographically or clinically. Graft materials were diverse, implants were placed simultaneously, or up to two years post-augmentation. The associated surgical ciliated cysts developed between 0.5 and 10 years post-augmentation. Although limited in its extent, this study is the first series to characterize possible underreported sequelae of surgical ciliated cysts associated with sinus floor augmentation. It emphasizes the need for long post-operative follow-up and confirmation of lesion by microscopic examination.

Aromatase deficiency: A case series of 46, XX Chinese children and a systematic review of the literature

2020 ◽  
Vol 93 (6) ◽  
pp. 687-695
Author(s):  
Lijun Fan ◽  
Beibei Zhang ◽  
Lele Li ◽  
Chunxiu Gong
Keyword(s):  
Systematic Review ◽  
Case Series ◽  
Chinese Children ◽  
Review Of The Literature

scholarly journals Long-term outcomes of acromegaly treated with fractionated stereotactic radiation: case series and literature review

2017 ◽  
Vol 4 (4) ◽  
pp. 255-262
Author(s):  
Ryan Rhome ◽  
Isabelle M Germano ◽  
Ren-Dih Sheu ◽  
Sheryl Green
Keyword(s):  
Systematic Review ◽  
Literature Review ◽  
Case Series ◽  
Tumor Control ◽  
Pituitary Neoplasms ◽  
Review Of The Literature ◽  
Biochemical Control ◽  
Low Incidence

Abstract Background Growth hormone (GH)-secreting pituitary adenomas represent an uncommon subset of pituitary neoplasms. Stereotactic radiosurgery (SRS) and fractionated stereotactic radiotherapy (FSRT) have been used as primary or adjuvant treatment. The purpose of this study is to report the long-term tumor control and toxicity from our institution and to perform a systematic literature review of acromegaly patients treated with FSRT. Methods We retrospectively reviewed all patients treated with FSRT (median dose 50.4 Gray [Gy], range 50.4–54 Gy) between 2005 and 2012 who had: 1) GH-secreting adenoma with persistently elevated insulin growth factor-1 (IGF-1) despite medical therapy and 2) clinical follow up >3 years after FSRT. Patients were treated with modern FSRT planning techniques. Biochemical control was defined as IGF-1 normalization. Systematic review of the literature was performed for FSRT in acromegaly. Results With a median follow-up of 80 months, radiographic control was achieved in all 11 patients and overall survival was 100%. Long-term biochemical control was achieved in 10 patients (90.9%) with either FSRT alone (36.4%) or FSRT with continued medical management (45.5%). No patient experienced new hypopituitarism, cranial nerve dysfunctions, or visual deficits. Our systematic review found published rates of biochemical control and hypopituitarism vary, with uniformly good radiographic control and low incidence of visual changes. Conclusions Adjuvant FSRT offered effective long-term biochemical control and radiographic control, and there was a lower rate of complications in this current series. Review of the literature shows variations in published rates of biochemical control after FSRT for acromegaly, but low incidence of serious toxicities.

scholarly journals A Systematic Review of the Literature on Early Vocalizations and Babbling Patterns in Young Children

2018 ◽  
Vol 40 (1) ◽  
pp. 3-14 ◽  
Author(s):  
Lydia Morgan ◽  
Yvonne E. Wren
Keyword(s):  
Systematic Review ◽  
Case Series ◽  
Speech Development ◽  
Cochrane Library ◽  
Bibliographic Databases ◽  
Review Of The Literature ◽  
Phonological Acquisition ◽  
Future Studies ◽  
The Cochrane Library ◽  
Children's Speech

Children’s speech development begins in infancy. The pattern of this development has been explored in studies over a number of years using a range of research methodology and approaches to investigation. A systematic review of the existing literature was carried out to determine the collective contribution of this literature to our understanding of early vocalizations and babbling through the period 9 to 18 months. Eight bibliographic databases were searched as well as the Cochrane library. Thirteen studies were identified for inclusion, which were mostly longitudinal observational case series. The review identified progressive increases in the complexity and volume of infants’ early vocalizations through the period. It also found a broad order of phonological acquisition. Although the studies in this review demonstrated marked individual variation, the review provides indicative patterns of development which can be used as a basis to explore relationships with later speech development in future studies.

scholarly journals The use of olanzapine as an antiemetic in palliative medicine: a systematic review of the literature

2020 ◽  
Author(s):  
Gaëtan Saudemont ◽  
Chloé Prod'Homme ◽  
Arlette Da Silva ◽  
Stephanie Villet ◽  
Michel Reich ◽  
...  
Keyword(s):  
Systematic Review ◽  
Palliative Care ◽  
Palliative Medicine ◽  
Statistical Power ◽  
Care Setting ◽  
Case Series ◽  
Review Of The Literature ◽  
Palliative Care Setting ◽  
Initial Work ◽  
Bibliographic Search

Abstract Background: Olanzapine is an atypical antipsychotic that has affinity for many central nervous system receptors. Its efficacy is supported by several studies in the prevention and treatment of chemotherapy-induced nausea and vomiting. No recommendations exist on the antiemetic use of olanzapine in the palliative care setting. The aim of this work is to complete the initial work of Fonte et al. published in 2015, to determine whether the literature supports the use of olanzapine as an antiemetic in palliative situations and, in practice, to propose a therapeutic schema adapted to the palliative setting. Methods: Systematic review of the literature according to the PRISMA criteria. We searched the PubMed, Cochrane, RefDoc, EMBase databases and the gray literature databases. The bibliographic search was conducted between November 2016 and August 2017. Results: Thirteen articles were included: 2 case studies, 3 case series, 3 retrospective studies, 2 prospective studies, 2 literature reviews. All studies concluded on the efficacy of olanzapine as an antiemetic in the palliative care setting. No serious adverse effects were reported. Based on the data from the literature review, we propose a therapeutic scheme adapted to the palliative care context. Conclusion : Action of olanzapine on many receptors and its tolerance profile make it an interesting antiemetic treatment in palliative medicine. But to date, studies are scarce and have a low statistical power. Further investigation is therefore needed to determine the benefit of this treatment in palliative care patients, compared to usual treatments.

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